Skip to main content

Varsha Jagtap

Followers

0

Following

1

Public Views

University of Zagreb

Uppsala University

University of East London

Armando Marques-Guedes

UNL - New University of Lisbon

University of Leicester

Gwen Robbins Schug

University of North Carolina at Greensboro

Gabriel Gutierrez-Alonso

University of Salamanca

Macquarie University

Universidade Federal do Rio Grande do Sul

Swansea University

Uploads

Papers by Varsha Jagtap

Coexistent Pituitary Adenoma with Rathke's Cleft Cyst: A Case Series

The Journal of the Association of Physicians of India, 2018

Objective Co existent pituitary adenoma and Rathke's cleft cyst (RCC) is a rare entity. Purpo... more Objective Co existent pituitary adenoma and Rathke's cleft cyst (RCC) is a rare entity. Purpose of this study is to describe the clinical presentation, imaging findings, and management of patients with this combination. Methods Retrospective review of records from a single tertiary care center for a period of three years [2009-2012]. Results Out of the total 284 pituitary adenoma patients in the study period, there were four patients one each of Cushing's disease, acromegaly, prolactinoma and non-secretory pituitary adenoma with coexisting RCC in all. Three of these were diagnosed to have coexisting RCC in preoperative MRI. All of them underwent transphenoidal excision of the lesions. Histopathology confirmed the collision sellar lesions in all four. Conclusions It is difficult to diagnose coexisting RCC preoperatively due to variable size, position and signal intensity. However when a nonenhancing cyst is incidentally detected by MRI in a patient with pituitary adenoma, the...

Pheochromocytoma related intracerebral hemorrhage, hypertrophic obstructive cardiomyopathy and diabetes mellitus

International Journal of Advances in Medicine, 2021

Pheochromocytomas are rare catecholamine secreting neuroendocrine tumors that can cause intracere... more Pheochromocytomas are rare catecholamine secreting neuroendocrine tumors that can cause intracerebral hemorrhage sometimes and can very rarely cause cardiomyopathy simulating hypertrophic obstructive cardiomyopathy. We report a case of combination of these rare clinical complications occurring in a patient with pheochromocytoma. This case illustrates importance of early recognition of classic symptoms of catecholamine excess in young patients with hypertension.

Cytochrome P450 oxidoreductase deficiency: Novel cause of ambiguity with primary amenorrhea

Indian Journal of Endocrinology and Metabolism, 2017

Spectrum of Phenotype and Genotype of Congenital Isolated Hypogonadotropic Hypogonadism in Asian Indians

Clinical endocrinology, Jul 28, 2015

Congenital isolated hypogonadotropic hypogonadism (IHH) is caused due to defect in GnRH neuronal ... more Congenital isolated hypogonadotropic hypogonadism (IHH) is caused due to defect in GnRH neuronal development, migration and action. Although genetic etiology of IHH is increasingly being studied, Asian Indian data on phenotypic spectrum and genetic basis is scarce. To investigate the phenotypic and genotypic spectrum of IHH in Asian Indian subjects. A cohort of 135 IHH probands were characterised phenotypically for reproductive and non reproductive features and screened for rare sequence variations (RSVs) in five genes KAL1, FGFR1, FGF8, GNRHR and KISS1R. Out of 135 probands (56 nIHH and 79 KS), 20 were familial cases. KS group had more male dominance (M:F ratio of 8:1) as compared to nIHH group (M:F ratio of 1.5:1). Complete absence of puberty was more prevalent in KS probands (81% in KS vs 46% in nIHH). The prevalence of MRI abnormalities was more in anosmic group (92.8%) as compared to hyposmic (37.5%) and normosmic groups (15.4%). No particular non-reproductive phenotypic predom...

7. Hypercortisolism after Total Adrenalectomy

Diagnostic Dilemmas: Images in Endocrinology, 2011

Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency

Pituitary, 2011

Certain pituitary imaging abnormalities are a specific indicator of hypopituitarism. The objectiv... more Certain pituitary imaging abnormalities are a specific indicator of hypopituitarism. The objective of this study is to compare phenotypical features with radiological findings in patients with congenital growth hormone deficiency (GHD). Magnetic Resonance imaging (MRI) was performed in 103 patients [72 with Isolated GHD (IGHD) and 31 with Combined Pituitary Hormone Deficiency (CPHD)]. Images were assessed for the following abnormalities: (1) small/absent anterior pituitary, (2) thin or interrupted pituitary stalk (PSA), and (3) Ectopic posterior pituitary (EPP), and (4) others. Radiological findings were correlated with the clinical and biochemical parameters. MRI abnormalities were observed in 48.6% patients with IGHD, 93.5% with CPHD. Jaundice, hypoxia, hypoglycemia and breech deliveries were more common in EPP/PSA group. EPP/PSA was observed in 87.1% patients with severe GHD (peak GH \ 3 lg/L) as compared to 12.9% with mild to moderate GHD (peak GH: 3-10 lg/L). Amongst CPHD, EPP/PSA was present in 80% of subjects with associated hypocortisolism ± hypothyroidism as compared to 18.2% of subjects with hypogonadism. Over a mean follow up period of 4.5 years, 5.4% of subjects with IGHD and abnormal MRI progressed to CPHD while none of those with normal MRI progressed. This study emphasizes a significant clinico-radiological correlation in Asian Indian GHD patients. MRI abnormalities in the hypothalamic pituitary area, especially EPP/PSA are more common in patients with CPHD and severe GHD. Among CPHD, EPP/PSA predicts association with hypothyroidism or hypocortisolism. IGHD with MRI abnormality may evolve into CPHD.

Primary (autoimmune) hypophysitis: a single centre experience

Pituitary, 2013

Autoimmune hypophysitis (AH) is a rare autoimmune inflammatory disorder of pituitary gland. To an... more Autoimmune hypophysitis (AH) is a rare autoimmune inflammatory disorder of pituitary gland. To analyse clinical, hormonal, radiological features and management outcomes of AH. Retrospective analysis of patients with primary hypophysitis (where secondary causes of hypophysitis were ruled out) was carried out from 2006 to 2012. AH emerged as the most plausible aetiology and the diagnosis of exclusion. Twenty-four patients with AH (21 females and 3 males) were evaluated. They presented with symptoms of expanding sellar mass (83.3%), symptoms of anterior pituitary hormone deficiencies (58.3%), and diabetes insipidus (16.7%). The anterior pituitary hormonal axes affected were cortisol (75%), thyroid (58.33%) and gonadotropin (50%). All had sellar mass on magnetic resonance imaging, which was symmetrical (91.7%) and homogenously enhancing (91.7%). Stalk thickening, suprasellar extension, loss of posterior pituitary hyperintensity and parasellar T2 dark sign were seen in 87.5, 87.5, 71.5, and 50% respectively. In addition to hormone replacement, five (20.83%) patients underwent trans-sphenoidal surgery, fifteen (62.5%) were watchfully monitored, while four cases (16.67%) received steroid pulse therapy. On follow up imaging, the sellar mass regressed in all, while, stalk thickening was persistent in 13/19 (68.4%) non-operated patients at median follow up of 1 year. Pituitary hormone axis recovery was seen in 10 (41.67%) and was seen in cortisol 10/18 (55.5%) followed by gonadotropin 5/12 (41.67%) axis. Characteristic radiology helps in diagnosis of AH even without tissue diagnosis. Non-operative treatment is the preferred treatment modality. Steroid pulse therapy potentially improves pituitary axis recovery.

$Research paper thumbnail of Encouraging efficacy of modern conformal fractionated radiotherapy in patients with uncured Cushing’s disease$

Encouraging efficacy of modern conformal fractionated radiotherapy in patients with uncured Cushing’s disease

Pituitary, 2013

The objective of this study was to assess the efficacy of modern conformal fractionated radiother... more The objective of this study was to assess the efficacy of modern conformal fractionated radiotherapy (RT) in patients with uncured Cushing&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (CD) after failed transsphenoidal surgery (TSS). In this retrospective analysis, we reviewed records of patients with CD who received modern conformal fractionated RT between 2001 and 2010. Records were evaluated for frequency and interval of remission post RT. The change in the tumour size, endocrine insufficiencies and complications developing post RT were noted. Remission was defined as 2 mg Low dose dexamethasone suppressed cortisol of &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;50 nmol/l. During the study period of 10 years, a total of 24 patients (mean age: 27.9, range: 21-48 years) underwent pituitary RT for CD. Out of these, long term follow up was available for 22 patients and 20 patients (15F/5M, 12 microadenomas/8 macroadenomas) were included for final analysis. All the patients received modern conformal fractionated external beam RT (45 Gy in 25 fractions) with the median follow up of 37.5 months (range 12-144). Fifteen patients (10 microadenomas/5 macroadenomas) underwent remission after a median follow up period of 20 months. None of the patients had recurrence. Post RT, new onset endocrine deficiencies were seen in 8 (40 %) patients. Modern conformal fractionated external beam radiotherapy is an effective modality for treatment of adult patients with CD after failed TSS.

Radiofrequency Ablation, an Effective Modality of Treatment in Tumor-Induced Osteomalacia: A Case Series of Three Patients

The Journal of Clinical Endocrinology & Metabolism, 2014

Context: Tumor-induced osteomalacia is curable if the tumors can be totally excised. However, whe... more Context: Tumor-induced osteomalacia is curable if the tumors can be totally excised. However, when the tumors are present in locations that make surgery disproportionately risky, the need for less invasive strategies like radiofrequency ablation (RFA) is realized. Patients and Methods: We describe three patients with suspected tumor-induced osteomalacia who were treated in our department between 2006 and 2013 with tumors in surgically difficult locations and were subjected to single or multiple sessions of RFA. The response was documented in terms of symptomatic improvement, phosphorus normalization, and follow-up 99mTechnitium-labelled hydrazinonicotinyl-Tyr3-octreotide (99mTc HYNIC TOC) scan. Results: Two of the three individuals, patient A (with a 1.5 × 1.2-cm lesion in the head of the right femur) and patient B (with a 1.3 × 1.2-cm lesion on the endosteal surface of the shaft of the left femur), achieved complete remission with single sessions of RFA. Three months after the proc...

Prevalence and Impact of Thyroid Disorders on Maternal Outcome in Asian-Indian Pregnant Women

Journal of Thyroid Research, 2011

Aims. To establish the prevalence and the effect of thyroid dysfunction on pregnancy outcomes in ... more Aims. To establish the prevalence and the effect of thyroid dysfunction on pregnancy outcomes in Asian-Indian population.Subjects and Methods. The study cohort comprised of 483 consecutive pregnant women in the first trimester attending the antenatal clinic of a tertiary center in Mumbai, India. Thyroid hormone levels and thyroid peroxidase antibody were estimated. Patients with thyroid dysfunction were assessed periodically or treated depending on the severity. Subjects were followed until delivery.Results. The prevalence of hypothyroidism, Graves' disease, gestational transient thyrotoxicosis, and thyroid autoimmunity (TAI) was 4.8% (), 0.6% (), 6.4 % (), and 12.4% (), respectively. Forty percent of the hypothyroid patients did not have any high-risk characteristics. Hypothyroidism and TAI were associated with miscarriage ( and , resp.).Conclusions. The prevalence of hypothyroidism (4.8%) and TAI (12.4%) is high. TAI and hypothyroidism were significantly associated with miscar...

Vanishing tumor in pregnancy

Indian Journal of Endocrinology and Metabolism, 2012

A patient with microprolactinoma, who had two successful pregnancies, is described for management... more A patient with microprolactinoma, who had two successful pregnancies, is described for management issues. First pregnancy was uneventful. During the second pregnancy, the tumor enlarged to macroprolactinoma with headache and blurring of vision which was managed successfully with bromocriptine. Post delivery, complete disappearance of the tumor was documented.

Cushing′s syndrome: Stepwise approach to diagnosis

Indian Journal of Endocrinology and Metabolism, 2011

The projected prevalence of Cushing's syndrome (CS) inclusive of subclinical cases in the adult p... more The projected prevalence of Cushing's syndrome (CS) inclusive of subclinical cases in the adult population ranges from 0.2-2% and it may no longer be considered as an orphan disease (2-3 cases/million/year). The recognition of CS by physicians is important for early diagnosis and treatment. Late-night salivary cortisol, dexamethasone suppressiontesti, or 24-h urine free cortisol are good screening tests. Positively screened cases need stepwise evaluation by an endocrinologist. This paper discusses the importance of screening for CS and suggests a stepwise diagnostic approach to a case of suspected hypercortisolism.

Prevalence of upper airway obstruction in patients with apparently asymptomatic euthyroid multi nodular goitre

Indian Journal of Endocrinology and Metabolism, 2011

To study the prevalence of upper airway obstruction (UAO) in "apparently asymptomatic" patients w... more To study the prevalence of upper airway obstruction (UAO) in "apparently asymptomatic" patients with euthyroid multinodular goitre (MNG) and find correlation between clinical features, UAO on pulmonary function test (PFT) and tracheal narrowing on computerised tomography (CT). Materials and Methods: Consecutive patients with apparently asymptomatic euthyroid MNG attending thyroid clinic in a tertiary centre underwent clinical examination to elicit features of UAO, PFT, and CT of neck and chest. Statistical Analysis Used: Statistical analysis was done with SPSS version 11.5 using paired t-test, Chi square test, and Fisher's exact test. P value of <0.05 was considered to be significant. Results: Fifty-six patients (52 females and four males) were studied. The prevalence of UAO (PFT) and significant tracheal narrowing (CT) was 14.3%. and 9.3%, respectively. Clinical features failed to predict UAO or significant tracheal narrowing. Tracheal narrowing (CT) did not correlate with UAO (PFT). Volume of goitre significantly correlated with degree of tracheal narrowing. Conclusions: Clinical features do not predict UAO on PFT or tracheal narrowing on CT in apparently asymptomatic patients with euthyroid MNG.

Hyperphagic short stature: A case report and review of literature

Indian Journal of Endocrinology and Metabolism, 2012

A 5½-year-old adopted girl was referred to us in view of short stature. After ruling out systemic... more A 5½-year-old adopted girl was referred to us in view of short stature. After ruling out systemic illness, she was evaluated for growth hormone deficiency (GHD) by stimulation tests. The peak value was 3.47 ng/ml. She was then started on growth hormone (GH). At the end of 6 months of GH therapy, her height velocity was only 3 cm/year. There was a lack of attachment between the mother and the child. She had history of hyperphagia, stealing, and hoarding food. Psychiatry consultation confirmed that the child had appetite disorder, and hence was diagnosed as hyperphagic short stature (HSS). The girl and her parents are undergoing psychiatric therapy for the same. Psychosocial dwarfism seems to originate from serious disturbances in the mother-child relationship. These children mimic patients with GHD, but have poor response to GH therapy. This case underscores the importance of social environment in the growth of the individual.

Renal manifestations of primary hyperparathyroidism

Indian Journal of Endocrinology and Metabolism, 2012

Primary hyperparathyroidism (PHPT) is associated with nephrolithiasis and nephrocalcinosis. Hyper... more Primary hyperparathyroidism (PHPT) is associated with nephrolithiasis and nephrocalcinosis. Hypercalciuria is one of the multiple factors that is implicated in the complex pathophysiology of stone formation. The presence of a renal stone (symptomatic or asymptomatic) categorizes PHPT as symptomatic and is an indication for parathyroid adenomectomy. Progression of nephrocalcinosis is largely reversible after successful surgery, but the residual risk persists. PHPT is also associated with declining renal function. In case of asymptomatic mild PHPT, annual renal functional assessment is advised. Guidelines suggest that an estimated glomerular filtration rate (eGFR) < 60 ml / minute / 1.73 m 2 is an indication for parathyroid adenomectomy. This article discusses how to monitor and manage renal stones and other related renal parameters in case of PHPT.

Hypophosphatemic rickets

Indian Journal of Endocrinology and Metabolism, 2012

Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/ac... more Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets. The other common forms are autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia. Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin. Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far. Newer disorders are being added as the mechanisms in this axis get discovered. This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization.

Pheochromocytoma and Tetralogy of Fallot: A Rare but Potentially Dangerous Combination

Endocrine Practice, 2014

To describe a case of pheochromocytoma (PHEO) with tetralogy of Fallot (TOF) and discuss the diff... more To describe a case of pheochromocytoma (PHEO) with tetralogy of Fallot (TOF) and discuss the difficulties encountered during the management of this patient, with a review of the literature. We report the clinical course, imaging, and management issues of our patient and review relevant literature. A 14-year-old female who was known to have TOF presented with classical paroxysmal symptoms and worsening dyspnea. She was diagnosed as having epinephrine-secreting PHEO based on biochemical, radiologic, and functional imaging. She was treated with an α-1 blocker for control of paroxysms but developed severe cyanotic spells. She required addition of a calcium-channel blocker for control of the paroxysms and underwent successful cardiac repair. Treatment of the combination of cyanotic congenital heart disease (CCHD) and PHEO requires an individualized and multidisciplinary approach with judicious use of available medications. This is the first case of uncorrected TOF and epinephrine-secreting PHEO. Our case also reiterates the need for further studies to better understand the pathophysiologic link between PHEO/paraganglioma and CCHD.

Tumor-induced osteomalacia: a single center experience

Endocrine Practice, 2011

To describe the clinical presentation, localization modalities, and management of patients with t... more To describe the clinical presentation, localization modalities, and management of patients with tumor-induced osteomalacia (TIO). We performed a retrospective analysis of case records of patients diagnosed with TIO between January 1996 and March 2010 at our institution in Mumbai, India. Nine patients (6 female and 3 male) with a mean age of 37.5 ± 17.5 years with biochemical and imaging evidence of TIO were included in the study. Overall, patients presented with proximal muscle weakness and pain. Three patients had neurofibromatosis 1, one had isolated schwannoma, and one had epidermal nevus syndrome. The mean delay in diagnosis was 7.67 years. Biochemical studies revealed normal serum calcium (mean, 9.2 ± 0.8 mg/dL), low serum phosphorus (mean, 1.36 ± 0.54 mg/dL), and low maximal tubular reabsorption of phosphorus factored for glomerular filtration rate (mean, 0.94 ± 0.49 mg/dL). Fibroblast growth factor-23 was increased in 3 of the patients without neurofibromatosis but was normal or near-normal in all the patients with neurofibromas. A fludeoxyglucose F 18 positron emission tomography (FDG PET) scan helped to localize the tumors in 4 of the 5 patients with diagnoses other than neurofibromatosis. Three patients underwent surgical excision and were cured. One patient underwent biopsy and partial excision. Histopathologic findings were suggestive of phosphaturic mesenchymal tumor, benign fibrous histiocytoma, nonossifying fibroma, and sciatic nerve schwannoma. There is a well-known delay in the diagnosis of TIO. FDG PET is a useful modality for localization of tumors. Preoperative localization increases the odds for cure after surgical excision.

An Objective Olfactory Evaluation and its Correlation with Magnetic Resonance Imaging Findings in Asian Indian Patients with Idiopathic Hypogonadotropic Hypogonadism

Endocrine Practice, 2013

Idiopathic hypogonadotropic hypogonadism (IHH) can be associated with subnormal sense of smell. T... more Idiopathic hypogonadotropic hypogonadism (IHH) can be associated with subnormal sense of smell. The objective of our study was to determine if there is a correlation between the olfactory phenotype (clinical smell test) of IHH patients and structural abnormalities in the olfactory apparatus on magnetic resonance imaging (MRI). This was a single-center prospective case control study. Forty-one IHH patients underwent a brief University of Pennsylvania Smell Identification Test (UPSIT) and an MRI of the olfactory apparatus. The size of the olfactory sulcus and bulb were quantified and compared with the normative data of 40 controls. Agreement between UPSIT and MRI results was assessed using the kappa index. MRI showed that the olfactory apparatus was normal in 17 patients, hypoplastic in 14, and aplastic in 10. All 13 patients who complained of anosmia and 12 of 28 patients who reported normosmia had a low UPSIT score. Thus, 25 patients had Kallmann syndrome (KS) and 16 were normosmic IHH (nIHH). MRI revealed abnormalities in 68% of KS and 37.5% of nIHH patients. The MRI abnormalities in KS patients were aplasia (56%) and hypoplasia (44%). All 6 nIHH patients with abnormal MRI had hypoplasia. A significant positive correlation (r = 0.61; P&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;.01) between olfactory bulb volume (from MRI) and smell-test score was found, and there was good agreement (kappa index, 0.72) between anosmia and the presence of an aplastic olfactory apparatus. Self-reporting of the sense of smell significantly underestimates olfactory phenotype; hence, we recommend an objective smell test to distinguish KS from nIHH. Olfactory phenotype correlates well with MRI quantification of the olfactory apparatus in IHH.

Ectopic Acth-Secreting Syndrome: A Single-Center Experience

Endocrine Practice, 2013

Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare cause of ACTH-depen... more Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare cause of ACTH-dependent endogenous hypercortisolism. The objective of this study was to analyze clinical, biochemical, and imaging characteristics; management strategies; and outcomes of EAS patients. We screened the records (1993-2012) of ACTH-dependent endogenous hypercortisolism cases managed at a tertiary care center. Of the 218 patients, 17 were diagnosed with EAS. The median 8:00 AM serum cortisol was 36 μg/dL (11.4-82.7 μg/dL), and the median basal plasma ACTH was 156 pg/mL (53.5-468 pg/mL). Notably, ACTH levels below 100 pg/mL were found in 4 patients. Suspicious microadenoma was found on magnetic resonance imaging (MRI) of the pituitary in 5 patients, and all of them underwent transsphenoidal surgery (TSS). Inferior petrosal sinus sampling (IPSS) was performed in 8 patients, and the results were suggestive of a peripheral source in all 8. Computed tomography (CT) localized the lesion in 15/17 patients. In 2 patients with negative CTs, gallium DOTATATE positron emission tomography (PET) scans localized the lesion. Despite difficulties localizing bronchial carcinoids, the cure rate was high (72%). In contrast, thymic carcinoids were easily localized but had poor outcomes. EAS cannot be ruled out on the basis of marginally elevated ACTH. In cases with an equivocal MRI pituitary finding, prior IPSS can help avoid unnecessary TSS. CT is a useful modality for localization of an ectopic source. Functional imaging may help in cases where anatomical imaging fails.

Coexistent Pituitary Adenoma with Rathke's Cleft Cyst: A Case Series

The Journal of the Association of Physicians of India, 2018

Objective Co existent pituitary adenoma and Rathke's cleft cyst (RCC) is a rare entity. Purpo... more Objective Co existent pituitary adenoma and Rathke's cleft cyst (RCC) is a rare entity. Purpose of this study is to describe the clinical presentation, imaging findings, and management of patients with this combination. Methods Retrospective review of records from a single tertiary care center for a period of three years [2009-2012]. Results Out of the total 284 pituitary adenoma patients in the study period, there were four patients one each of Cushing's disease, acromegaly, prolactinoma and non-secretory pituitary adenoma with coexisting RCC in all. Three of these were diagnosed to have coexisting RCC in preoperative MRI. All of them underwent transphenoidal excision of the lesions. Histopathology confirmed the collision sellar lesions in all four. Conclusions It is difficult to diagnose coexisting RCC preoperatively due to variable size, position and signal intensity. However when a nonenhancing cyst is incidentally detected by MRI in a patient with pituitary adenoma, the...

Pheochromocytoma related intracerebral hemorrhage, hypertrophic obstructive cardiomyopathy and diabetes mellitus

International Journal of Advances in Medicine, 2021

Pheochromocytomas are rare catecholamine secreting neuroendocrine tumors that can cause intracere... more Pheochromocytomas are rare catecholamine secreting neuroendocrine tumors that can cause intracerebral hemorrhage sometimes and can very rarely cause cardiomyopathy simulating hypertrophic obstructive cardiomyopathy. We report a case of combination of these rare clinical complications occurring in a patient with pheochromocytoma. This case illustrates importance of early recognition of classic symptoms of catecholamine excess in young patients with hypertension.

Cytochrome P450 oxidoreductase deficiency: Novel cause of ambiguity with primary amenorrhea

Indian Journal of Endocrinology and Metabolism, 2017

Spectrum of Phenotype and Genotype of Congenital Isolated Hypogonadotropic Hypogonadism in Asian Indians

Clinical endocrinology, Jul 28, 2015

Congenital isolated hypogonadotropic hypogonadism (IHH) is caused due to defect in GnRH neuronal ... more Congenital isolated hypogonadotropic hypogonadism (IHH) is caused due to defect in GnRH neuronal development, migration and action. Although genetic etiology of IHH is increasingly being studied, Asian Indian data on phenotypic spectrum and genetic basis is scarce. To investigate the phenotypic and genotypic spectrum of IHH in Asian Indian subjects. A cohort of 135 IHH probands were characterised phenotypically for reproductive and non reproductive features and screened for rare sequence variations (RSVs) in five genes KAL1, FGFR1, FGF8, GNRHR and KISS1R. Out of 135 probands (56 nIHH and 79 KS), 20 were familial cases. KS group had more male dominance (M:F ratio of 8:1) as compared to nIHH group (M:F ratio of 1.5:1). Complete absence of puberty was more prevalent in KS probands (81% in KS vs 46% in nIHH). The prevalence of MRI abnormalities was more in anosmic group (92.8%) as compared to hyposmic (37.5%) and normosmic groups (15.4%). No particular non-reproductive phenotypic predom...

7. Hypercortisolism after Total Adrenalectomy

Diagnostic Dilemmas: Images in Endocrinology, 2011

Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency

Pituitary, 2011

Certain pituitary imaging abnormalities are a specific indicator of hypopituitarism. The objectiv... more Certain pituitary imaging abnormalities are a specific indicator of hypopituitarism. The objective of this study is to compare phenotypical features with radiological findings in patients with congenital growth hormone deficiency (GHD). Magnetic Resonance imaging (MRI) was performed in 103 patients [72 with Isolated GHD (IGHD) and 31 with Combined Pituitary Hormone Deficiency (CPHD)]. Images were assessed for the following abnormalities: (1) small/absent anterior pituitary, (2) thin or interrupted pituitary stalk (PSA), and (3) Ectopic posterior pituitary (EPP), and (4) others. Radiological findings were correlated with the clinical and biochemical parameters. MRI abnormalities were observed in 48.6% patients with IGHD, 93.5% with CPHD. Jaundice, hypoxia, hypoglycemia and breech deliveries were more common in EPP/PSA group. EPP/PSA was observed in 87.1% patients with severe GHD (peak GH \ 3 lg/L) as compared to 12.9% with mild to moderate GHD (peak GH: 3-10 lg/L). Amongst CPHD, EPP/PSA was present in 80% of subjects with associated hypocortisolism ± hypothyroidism as compared to 18.2% of subjects with hypogonadism. Over a mean follow up period of 4.5 years, 5.4% of subjects with IGHD and abnormal MRI progressed to CPHD while none of those with normal MRI progressed. This study emphasizes a significant clinico-radiological correlation in Asian Indian GHD patients. MRI abnormalities in the hypothalamic pituitary area, especially EPP/PSA are more common in patients with CPHD and severe GHD. Among CPHD, EPP/PSA predicts association with hypothyroidism or hypocortisolism. IGHD with MRI abnormality may evolve into CPHD.

Primary (autoimmune) hypophysitis: a single centre experience

Pituitary, 2013

Autoimmune hypophysitis (AH) is a rare autoimmune inflammatory disorder of pituitary gland. To an... more Autoimmune hypophysitis (AH) is a rare autoimmune inflammatory disorder of pituitary gland. To analyse clinical, hormonal, radiological features and management outcomes of AH. Retrospective analysis of patients with primary hypophysitis (where secondary causes of hypophysitis were ruled out) was carried out from 2006 to 2012. AH emerged as the most plausible aetiology and the diagnosis of exclusion. Twenty-four patients with AH (21 females and 3 males) were evaluated. They presented with symptoms of expanding sellar mass (83.3%), symptoms of anterior pituitary hormone deficiencies (58.3%), and diabetes insipidus (16.7%). The anterior pituitary hormonal axes affected were cortisol (75%), thyroid (58.33%) and gonadotropin (50%). All had sellar mass on magnetic resonance imaging, which was symmetrical (91.7%) and homogenously enhancing (91.7%). Stalk thickening, suprasellar extension, loss of posterior pituitary hyperintensity and parasellar T2 dark sign were seen in 87.5, 87.5, 71.5, and 50% respectively. In addition to hormone replacement, five (20.83%) patients underwent trans-sphenoidal surgery, fifteen (62.5%) were watchfully monitored, while four cases (16.67%) received steroid pulse therapy. On follow up imaging, the sellar mass regressed in all, while, stalk thickening was persistent in 13/19 (68.4%) non-operated patients at median follow up of 1 year. Pituitary hormone axis recovery was seen in 10 (41.67%) and was seen in cortisol 10/18 (55.5%) followed by gonadotropin 5/12 (41.67%) axis. Characteristic radiology helps in diagnosis of AH even without tissue diagnosis. Non-operative treatment is the preferred treatment modality. Steroid pulse therapy potentially improves pituitary axis recovery.

$Research paper thumbnail of Encouraging efficacy of modern conformal fractionated radiotherapy in patients with uncured Cushing’s disease$

Encouraging efficacy of modern conformal fractionated radiotherapy in patients with uncured Cushing’s disease

Pituitary, 2013

The objective of this study was to assess the efficacy of modern conformal fractionated radiother... more The objective of this study was to assess the efficacy of modern conformal fractionated radiotherapy (RT) in patients with uncured Cushing&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (CD) after failed transsphenoidal surgery (TSS). In this retrospective analysis, we reviewed records of patients with CD who received modern conformal fractionated RT between 2001 and 2010. Records were evaluated for frequency and interval of remission post RT. The change in the tumour size, endocrine insufficiencies and complications developing post RT were noted. Remission was defined as 2 mg Low dose dexamethasone suppressed cortisol of &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;50 nmol/l. During the study period of 10 years, a total of 24 patients (mean age: 27.9, range: 21-48 years) underwent pituitary RT for CD. Out of these, long term follow up was available for 22 patients and 20 patients (15F/5M, 12 microadenomas/8 macroadenomas) were included for final analysis. All the patients received modern conformal fractionated external beam RT (45 Gy in 25 fractions) with the median follow up of 37.5 months (range 12-144). Fifteen patients (10 microadenomas/5 macroadenomas) underwent remission after a median follow up period of 20 months. None of the patients had recurrence. Post RT, new onset endocrine deficiencies were seen in 8 (40 %) patients. Modern conformal fractionated external beam radiotherapy is an effective modality for treatment of adult patients with CD after failed TSS.

Radiofrequency Ablation, an Effective Modality of Treatment in Tumor-Induced Osteomalacia: A Case Series of Three Patients

The Journal of Clinical Endocrinology & Metabolism, 2014

Context: Tumor-induced osteomalacia is curable if the tumors can be totally excised. However, whe... more Context: Tumor-induced osteomalacia is curable if the tumors can be totally excised. However, when the tumors are present in locations that make surgery disproportionately risky, the need for less invasive strategies like radiofrequency ablation (RFA) is realized. Patients and Methods: We describe three patients with suspected tumor-induced osteomalacia who were treated in our department between 2006 and 2013 with tumors in surgically difficult locations and were subjected to single or multiple sessions of RFA. The response was documented in terms of symptomatic improvement, phosphorus normalization, and follow-up 99mTechnitium-labelled hydrazinonicotinyl-Tyr3-octreotide (99mTc HYNIC TOC) scan. Results: Two of the three individuals, patient A (with a 1.5 × 1.2-cm lesion in the head of the right femur) and patient B (with a 1.3 × 1.2-cm lesion on the endosteal surface of the shaft of the left femur), achieved complete remission with single sessions of RFA. Three months after the proc...

Prevalence and Impact of Thyroid Disorders on Maternal Outcome in Asian-Indian Pregnant Women

Journal of Thyroid Research, 2011

Aims. To establish the prevalence and the effect of thyroid dysfunction on pregnancy outcomes in ... more Aims. To establish the prevalence and the effect of thyroid dysfunction on pregnancy outcomes in Asian-Indian population.Subjects and Methods. The study cohort comprised of 483 consecutive pregnant women in the first trimester attending the antenatal clinic of a tertiary center in Mumbai, India. Thyroid hormone levels and thyroid peroxidase antibody were estimated. Patients with thyroid dysfunction were assessed periodically or treated depending on the severity. Subjects were followed until delivery.Results. The prevalence of hypothyroidism, Graves' disease, gestational transient thyrotoxicosis, and thyroid autoimmunity (TAI) was 4.8% (), 0.6% (), 6.4 % (), and 12.4% (), respectively. Forty percent of the hypothyroid patients did not have any high-risk characteristics. Hypothyroidism and TAI were associated with miscarriage ( and , resp.).Conclusions. The prevalence of hypothyroidism (4.8%) and TAI (12.4%) is high. TAI and hypothyroidism were significantly associated with miscar...

Vanishing tumor in pregnancy

Indian Journal of Endocrinology and Metabolism, 2012

A patient with microprolactinoma, who had two successful pregnancies, is described for management... more A patient with microprolactinoma, who had two successful pregnancies, is described for management issues. First pregnancy was uneventful. During the second pregnancy, the tumor enlarged to macroprolactinoma with headache and blurring of vision which was managed successfully with bromocriptine. Post delivery, complete disappearance of the tumor was documented.

Cushing′s syndrome: Stepwise approach to diagnosis

Indian Journal of Endocrinology and Metabolism, 2011

The projected prevalence of Cushing's syndrome (CS) inclusive of subclinical cases in the adult p... more The projected prevalence of Cushing's syndrome (CS) inclusive of subclinical cases in the adult population ranges from 0.2-2% and it may no longer be considered as an orphan disease (2-3 cases/million/year). The recognition of CS by physicians is important for early diagnosis and treatment. Late-night salivary cortisol, dexamethasone suppressiontesti, or 24-h urine free cortisol are good screening tests. Positively screened cases need stepwise evaluation by an endocrinologist. This paper discusses the importance of screening for CS and suggests a stepwise diagnostic approach to a case of suspected hypercortisolism.

Prevalence of upper airway obstruction in patients with apparently asymptomatic euthyroid multi nodular goitre

Indian Journal of Endocrinology and Metabolism, 2011

To study the prevalence of upper airway obstruction (UAO) in "apparently asymptomatic" patients w... more To study the prevalence of upper airway obstruction (UAO) in "apparently asymptomatic" patients with euthyroid multinodular goitre (MNG) and find correlation between clinical features, UAO on pulmonary function test (PFT) and tracheal narrowing on computerised tomography (CT). Materials and Methods: Consecutive patients with apparently asymptomatic euthyroid MNG attending thyroid clinic in a tertiary centre underwent clinical examination to elicit features of UAO, PFT, and CT of neck and chest. Statistical Analysis Used: Statistical analysis was done with SPSS version 11.5 using paired t-test, Chi square test, and Fisher's exact test. P value of <0.05 was considered to be significant. Results: Fifty-six patients (52 females and four males) were studied. The prevalence of UAO (PFT) and significant tracheal narrowing (CT) was 14.3%. and 9.3%, respectively. Clinical features failed to predict UAO or significant tracheal narrowing. Tracheal narrowing (CT) did not correlate with UAO (PFT). Volume of goitre significantly correlated with degree of tracheal narrowing. Conclusions: Clinical features do not predict UAO on PFT or tracheal narrowing on CT in apparently asymptomatic patients with euthyroid MNG.

Hyperphagic short stature: A case report and review of literature

Indian Journal of Endocrinology and Metabolism, 2012

A 5½-year-old adopted girl was referred to us in view of short stature. After ruling out systemic... more A 5½-year-old adopted girl was referred to us in view of short stature. After ruling out systemic illness, she was evaluated for growth hormone deficiency (GHD) by stimulation tests. The peak value was 3.47 ng/ml. She was then started on growth hormone (GH). At the end of 6 months of GH therapy, her height velocity was only 3 cm/year. There was a lack of attachment between the mother and the child. She had history of hyperphagia, stealing, and hoarding food. Psychiatry consultation confirmed that the child had appetite disorder, and hence was diagnosed as hyperphagic short stature (HSS). The girl and her parents are undergoing psychiatric therapy for the same. Psychosocial dwarfism seems to originate from serious disturbances in the mother-child relationship. These children mimic patients with GHD, but have poor response to GH therapy. This case underscores the importance of social environment in the growth of the individual.

Renal manifestations of primary hyperparathyroidism

Indian Journal of Endocrinology and Metabolism, 2012

Primary hyperparathyroidism (PHPT) is associated with nephrolithiasis and nephrocalcinosis. Hyper... more Primary hyperparathyroidism (PHPT) is associated with nephrolithiasis and nephrocalcinosis. Hypercalciuria is one of the multiple factors that is implicated in the complex pathophysiology of stone formation. The presence of a renal stone (symptomatic or asymptomatic) categorizes PHPT as symptomatic and is an indication for parathyroid adenomectomy. Progression of nephrocalcinosis is largely reversible after successful surgery, but the residual risk persists. PHPT is also associated with declining renal function. In case of asymptomatic mild PHPT, annual renal functional assessment is advised. Guidelines suggest that an estimated glomerular filtration rate (eGFR) < 60 ml / minute / 1.73 m 2 is an indication for parathyroid adenomectomy. This article discusses how to monitor and manage renal stones and other related renal parameters in case of PHPT.

Hypophosphatemic rickets

Indian Journal of Endocrinology and Metabolism, 2012

Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/ac... more Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets. The other common forms are autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia. Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin. Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far. Newer disorders are being added as the mechanisms in this axis get discovered. This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization.

Pheochromocytoma and Tetralogy of Fallot: A Rare but Potentially Dangerous Combination

Endocrine Practice, 2014

To describe a case of pheochromocytoma (PHEO) with tetralogy of Fallot (TOF) and discuss the diff... more To describe a case of pheochromocytoma (PHEO) with tetralogy of Fallot (TOF) and discuss the difficulties encountered during the management of this patient, with a review of the literature. We report the clinical course, imaging, and management issues of our patient and review relevant literature. A 14-year-old female who was known to have TOF presented with classical paroxysmal symptoms and worsening dyspnea. She was diagnosed as having epinephrine-secreting PHEO based on biochemical, radiologic, and functional imaging. She was treated with an α-1 blocker for control of paroxysms but developed severe cyanotic spells. She required addition of a calcium-channel blocker for control of the paroxysms and underwent successful cardiac repair. Treatment of the combination of cyanotic congenital heart disease (CCHD) and PHEO requires an individualized and multidisciplinary approach with judicious use of available medications. This is the first case of uncorrected TOF and epinephrine-secreting PHEO. Our case also reiterates the need for further studies to better understand the pathophysiologic link between PHEO/paraganglioma and CCHD.

Tumor-induced osteomalacia: a single center experience

Endocrine Practice, 2011

To describe the clinical presentation, localization modalities, and management of patients with t... more To describe the clinical presentation, localization modalities, and management of patients with tumor-induced osteomalacia (TIO). We performed a retrospective analysis of case records of patients diagnosed with TIO between January 1996 and March 2010 at our institution in Mumbai, India. Nine patients (6 female and 3 male) with a mean age of 37.5 ± 17.5 years with biochemical and imaging evidence of TIO were included in the study. Overall, patients presented with proximal muscle weakness and pain. Three patients had neurofibromatosis 1, one had isolated schwannoma, and one had epidermal nevus syndrome. The mean delay in diagnosis was 7.67 years. Biochemical studies revealed normal serum calcium (mean, 9.2 ± 0.8 mg/dL), low serum phosphorus (mean, 1.36 ± 0.54 mg/dL), and low maximal tubular reabsorption of phosphorus factored for glomerular filtration rate (mean, 0.94 ± 0.49 mg/dL). Fibroblast growth factor-23 was increased in 3 of the patients without neurofibromatosis but was normal or near-normal in all the patients with neurofibromas. A fludeoxyglucose F 18 positron emission tomography (FDG PET) scan helped to localize the tumors in 4 of the 5 patients with diagnoses other than neurofibromatosis. Three patients underwent surgical excision and were cured. One patient underwent biopsy and partial excision. Histopathologic findings were suggestive of phosphaturic mesenchymal tumor, benign fibrous histiocytoma, nonossifying fibroma, and sciatic nerve schwannoma. There is a well-known delay in the diagnosis of TIO. FDG PET is a useful modality for localization of tumors. Preoperative localization increases the odds for cure after surgical excision.

An Objective Olfactory Evaluation and its Correlation with Magnetic Resonance Imaging Findings in Asian Indian Patients with Idiopathic Hypogonadotropic Hypogonadism

Endocrine Practice, 2013

Idiopathic hypogonadotropic hypogonadism (IHH) can be associated with subnormal sense of smell. T... more Idiopathic hypogonadotropic hypogonadism (IHH) can be associated with subnormal sense of smell. The objective of our study was to determine if there is a correlation between the olfactory phenotype (clinical smell test) of IHH patients and structural abnormalities in the olfactory apparatus on magnetic resonance imaging (MRI). This was a single-center prospective case control study. Forty-one IHH patients underwent a brief University of Pennsylvania Smell Identification Test (UPSIT) and an MRI of the olfactory apparatus. The size of the olfactory sulcus and bulb were quantified and compared with the normative data of 40 controls. Agreement between UPSIT and MRI results was assessed using the kappa index. MRI showed that the olfactory apparatus was normal in 17 patients, hypoplastic in 14, and aplastic in 10. All 13 patients who complained of anosmia and 12 of 28 patients who reported normosmia had a low UPSIT score. Thus, 25 patients had Kallmann syndrome (KS) and 16 were normosmic IHH (nIHH). MRI revealed abnormalities in 68% of KS and 37.5% of nIHH patients. The MRI abnormalities in KS patients were aplasia (56%) and hypoplasia (44%). All 6 nIHH patients with abnormal MRI had hypoplasia. A significant positive correlation (r = 0.61; P&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;.01) between olfactory bulb volume (from MRI) and smell-test score was found, and there was good agreement (kappa index, 0.72) between anosmia and the presence of an aplastic olfactory apparatus. Self-reporting of the sense of smell significantly underestimates olfactory phenotype; hence, we recommend an objective smell test to distinguish KS from nIHH. Olfactory phenotype correlates well with MRI quantification of the olfactory apparatus in IHH.

Ectopic Acth-Secreting Syndrome: A Single-Center Experience

Endocrine Practice, 2013

Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare cause of ACTH-depen... more Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare cause of ACTH-dependent endogenous hypercortisolism. The objective of this study was to analyze clinical, biochemical, and imaging characteristics; management strategies; and outcomes of EAS patients. We screened the records (1993-2012) of ACTH-dependent endogenous hypercortisolism cases managed at a tertiary care center. Of the 218 patients, 17 were diagnosed with EAS. The median 8:00 AM serum cortisol was 36 μg/dL (11.4-82.7 μg/dL), and the median basal plasma ACTH was 156 pg/mL (53.5-468 pg/mL). Notably, ACTH levels below 100 pg/mL were found in 4 patients. Suspicious microadenoma was found on magnetic resonance imaging (MRI) of the pituitary in 5 patients, and all of them underwent transsphenoidal surgery (TSS). Inferior petrosal sinus sampling (IPSS) was performed in 8 patients, and the results were suggestive of a peripheral source in all 8. Computed tomography (CT) localized the lesion in 15/17 patients. In 2 patients with negative CTs, gallium DOTATATE positron emission tomography (PET) scans localized the lesion. Despite difficulties localizing bronchial carcinoids, the cure rate was high (72%). In contrast, thymic carcinoids were easily localized but had poor outcomes. EAS cannot be ruled out on the basis of marginally elevated ACTH. In cases with an equivocal MRI pituitary finding, prior IPSS can help avoid unnecessary TSS. CT is a useful modality for localization of an ectopic source. Functional imaging may help in cases where anatomical imaging fails.