Descriptions of new cases of human aromatase deficiency are useful for a better understanding of ... more Descriptions of new cases of human aromatase deficiency are useful for a better understanding of male oestrogen pathophysiology, as some aspects remain controversial. To present a new case of an adult man affected by aromatase deficiency, along with a description of clinical phenotype, and hormonal and genetic analysis. Case report study. A 25-year-old man with continuing linear growth, eunuchoid body habitus and diffuse bone pain. Amplification and sequencing of all coding exons with their flanking intronic sequences of the CYP19A1 gene. Aromatase expression of the mutant human cDNAs was compared with wild type. Serum LH, FSH, testosterone, oestradiol, insulin, glucose, glycosylated haemoglobin (HbA1c), serum lipids and liver enzymes were measured. Histological analysis of liver and testis biopsies was performed. Two novel heterozygous compound inactivating mutations of the CYP19A1 gene were disclosed. The first mutation is at bp380 (T-->G) in exon IV and the second one at bp 1124 (G-->A) in exon IX. LH and testosterone were normal, FSH was slightly elevated, and serum oestradiol undetectable. The subject showed a metabolic syndrome characterized by abdominal obesity, hyperinsulinaemia, acanthosis nigricans and nonalcoholic fatty liver disease. These novel mutations improve our knowledge on genetics of the CYP19A1 gene. This new case of aromatase deficiency sheds new light on the heterogeneity of mutations in the CYP19A1 gene causing loss of function of the aromatase enzyme. The evidence of metabolic syndrome and of obesity associated with congenital oestrogen deprivation emphasizes the role of oestrogens in fat accumulation and distribution in men, a role that has long been partially overlooked in these patients.
The Endocrine Society's 93rd Annual Meeting & Expo, June 4–7, 2011 - Boston, 2011
Methods: Basal serum fasting glucose, insulin, fructosamine, HbA1c, total, HDL-, LDL-cholesterol,... more Methods: Basal serum fasting glucose, insulin, fructosamine, HbA1c, total, HDL-, LDL-cholesterol, triglycerides, LH, FSH, total testosterone (T), estradiol and stimulated LH and FSH after a standard GnRH test. Results: A positive percentage increase from baseline of testosterone was observed in men with HbA1c≥ 9% at baseline after glycaemic control had been achieved, while in men with HbA1c< 9% a minimal decrease of testosterone was recorded, the mean percentage increase from baseline of group with HbA1c≥ 9% being ...
Journal of Endocrinological Investigation, Feb 1, 2005
Male age-related bone loss is caused at least in part from hypogonadism that occurs with advancin... more Male age-related bone loss is caused at least in part from hypogonadism that occurs with advancing age. Recently, the study of sex steroids on bone physiology in men has highlighted the central role of estrogens on bone pathophysiology. This review focuses on the relative role of sex steroids on bone loss in aging men.
The Endocrine Society's 93rd Annual Meeting & Expo, June 4–7, 2011 - Boston, 2011
Methods: Measurement of T and serum LH in 111 hypogonadic HIV positive outpatients aged 31–68 yea... more Methods: Measurement of T and serum LH in 111 hypogonadic HIV positive outpatients aged 31–68 years (mean 46.3 years) at baseline and after 12 months. Results: Mean T value at baseline was 235.8 ng/dl. After 12 months, 36 subjects (32.4%) had no change in T (a variation of< 50 ng/ml), 3 patients (2.7%) had a decrease (more than 50 ng/ml) and 72 patients (64.9%) had an increase in T (more than 50 ng/ml). 63 patients (56.7%) normalized T (> 300 ng/ml). Mean T value at baseline of the 63 patients who restored T was 236.3± ...
Subjects and methods: We included 35 HIV-infected female patients (mean age 44.6±7.6 SD) with lip... more Subjects and methods: We included 35 HIV-infected female patients (mean age 44.6±7.6 SD) with lipodystrophy according to the Marrakech scale. We investigated their GH response to standardised GHRH-arginine testing in order to compare it with BMI, VAT and subcutaneous adipose tissue (SAT) evaluated by CT scan. On the basis of current clinical guidelines we considered a severely impaired GH secretion (IGHS) when the GH peak after GHRH-arginine testing was ≤5 μg/L; a mildly IGHS when it was >5 μg/L but <9 μg/L and a normal GH secretion with a ...
In adult aromatase-deficient men, estrogen treatment has always resulted in a rapid skeletal matu... more In adult aromatase-deficient men, estrogen treatment has always resulted in a rapid skeletal maturation with epiphyseal closure and improved BMD. Raloxifene is a SERM with proven estrogen agonist action on bone that leads to an improvement in BMD and a reduction in bone turnover. The present study reports the effects of raloxifene and transdermal estradiol treatment, respectively, on epiphyseal closure and BMD in an aromatase-deficient man, over a 24-month follow-up, with the aim of obtaining further insight into the role of estrogens in the male skeletal homeostasis. A 25-year-old Caucasian man with aromatase deficiency, a bone age of 15.3 years, unfused epiphyses and an impaired BMD was initially administered raloxifene (60 mg/day per os) for 12 months, while transdermal estradiol (25 microg twice weekly) was administered for the subsequent 12 months. During the follow-up, the effects of the two treatments on epiphyseal closure, BMD and bone turnover markers were investigated. An iliac crest bone biopsy was performed only before and after the raloxifene treatment, but it was not repeated after transdermal estradiol treatment. No changes in bone age were observed after raloxifene therapy, whereas a complete epiphyseal closure was achieved with transdermal estradiol treatment. Compared with baseline values, raloxifene treatment led to improved BMD both at the ultradistal forearm and 33% radius; the transdermal estradiol treatment resulted in a further slight increase in BMD at the 33% radius, but not at the ultradistal forearm. The baseline bone biopsy showed elevated bone remodelling in trabecular bone, while the second biopsy following raloxifene treatment revealed a decrease in remodelling. This study shows that the management of aromatase deficiency in the male cannot consider raloxifene as a first choice treatment, but should be still based on estrogen replacement treatment since in this patient the completion of bone maturation has only been obtained once estradiol substitution was performed. The present case also demonstrates that raloxifene is able to improve BMD in aromatase-deficient men.
Methods: Hormones: GH, IGF-1, IGFBP-3; abdominal CT scan for VAT and SAT measurement; DEXA for th... more Methods: Hormones: GH, IGF-1, IGFBP-3; abdominal CT scan for VAT and SAT measurement; DEXA for the measurement of lean and fat body mass. Measurements were performed at baseline and after 24 months. Results: Serum IGF-1 (mean+SD: 130.2±48.2 at baseline, 175.1±55.4 ng/ml at 24 months; P< 0.01) and IGFBP3 (mean+SD: 2901.16±1328.4 at baseline 4315.6±1150.3 ng/ml at 24 months; P< 0.0001) increased significantly only in Group 2, as expected. VAT decreased in Group 2 (from 195.3±75.3 to 158.3±46.9 cm 2), ...
Journal of Endocrinological Investigation, Feb 1, 2003
Sexual behavior is mainly controlled by cognitive functions in men, though hormones, particularly... more Sexual behavior is mainly controlled by cognitive functions in men, though hormones, particularly sex steroids, may modulate some aspects of male sexuality. This review focuses on the role of both estrogens and androgens on male sexual desire, starting from both animal and human studies. Estrogens could play a role in human male sexual activity, similarly to what happens in animals, but even though physiological levels of estrogens could be probably required for a completely normal male sexual behavior, testosterone remains the major determinant of human male sexual behavior.
Methods: Measurement of serum total testosterone, LH and FSH in 950 outpatients aged 20–69 years ... more Methods: Measurement of serum total testosterone, LH and FSH in 950 outpatients aged 20–69 years (mean age 45.5 years) attending the metabolic clinic of infectious and tropical disease between 2005 and 2009. Results: Mean serum total testosterone was 470.9±205.5 ng/dl. Considering Endocrine Society thresholds for hypogonadism, 15.7% of patients was hypogonadic (T< 300 ng/dl);(8% hypogonadotropic, 77.2% normogonadotropic and 14.8% hypergonadotropic). According to thresholds proposed by the International Society for the ...
Journal of Reproduction and Contraception, May 28, 2015
The concept concerning the role of estrogens in male reproduction is a recent acquisi—tion in rep... more The concept concerning the role of estrogens in male reproduction is a recent acquisi—tion in reproductive endocrinology [.. 21. In the beginning of this decade, estrogens were&quot; on—sidered essential for life according to the f inding of estrogen receptors at a very earl2-stage of embryonic development. It was thought that estrogen insensitivity would be a lethal con—dition as a consequence of defectixre implantation of the blastocys (.・. In the last l 0 vears a large variety of biological effects of estrogens have been progressively discovered at ...
Objective-Few studies have examined the impact of viral hepatitis on bone mineral density (BMD), ... more Objective-Few studies have examined the impact of viral hepatitis on bone mineral density (BMD), and none have done so among HIV-infected patients. Our objective was to determine if viral hepatitis was associated with low BMD in HIV.
Background: Prevalence and factors associated with sexual dysfunction in HIV-positive women are p... more Background: Prevalence and factors associated with sexual dysfunction in HIV-positive women are poorly known. Methods: This was a cross-sectional study in a cohort of HIV-infected women. Clinically stable women were invited to participate in a female sexual dysfunction (FSD) evaluation with Female Sexual Function Index (FSFI) exploring desire, arousal, lubrication, orgasm, pain and satisfaction. An FSFI score <23 was used for defining FSD. Variables evaluated included body appearance satisfaction, interference of body changes with habits, social life and attitudinal aspects of body image, health-related quality of life, hormonal assessment, menopause, cumulative exposure to antiretroviral drug classes and immune-virological parameters. Lipodystrophy was defined according to the HIV Outpatient Study definition. Results: A total of 185 women completed the FSFI. The mean (±sd) age was 42 years (±5), 27% had CDC stage C, the mean (±sd) CD4 + T-cell count was 508 cells/µl (±251) and median HIV RNA was 1.7 log 10 copies/ ml (interquartile range 1.7-2.6). Among 161 evaluable patients, 59 (32%) reported FSD. In a multiple linear regression analysis, desire, arousal and satisfaction domains were associated with interference of body changes with habits, social life and attitudinal aspects of body image (β=0.22, 95% confidence interval [CI] 0.06-0.37; β=0.29, 95% CI 0.10-0.48; and β=0.20, 95% CI 0.02-0.38, respectively). Lubrication and orgasm domains were associated with body image satisfaction (β=-0.49, 95% CI -0.88--0.10 and β=-0.58, 95% CI -1.00--0.16, respectively). No significant associations with sex hormones, CDC stage, CD4 + T-cell count, HIV RNA viral load and cumulative exposure to antiretroviral drug classes were found. In women with FSD, severity of self-perceived abdominal fat accumulation showed a trend towards lower FSFI scores (ANOVA P=0.02).
Results: Ct-FNAB levels in nodules with MTC or C-Cells Hyperplasia (CCH) was significantly (P<... more Results: Ct-FNAB levels in nodules with MTC or C-Cells Hyperplasia (CCH) was significantly (P< 0.0001) higher than in hyperplastic nodules and than serum Ct (P= 0.02). The sensitivity and the specificity for basal Ct were 100 and 18.2% respectively. The sensitivity for Pg-test resulted 100%, and the specificity 95.4%. Cytology sensitivity was very low (10%) with a specificity of 95.4%. The ROC curves showed that both Ct-FNAB and Pg-test to correctly distinguish MTC or CCH nodules from hyperplastic nodules better than ...
Age-related bone loss in men is a poorly understood phenomenon, although increasing data on the p... more Age-related bone loss in men is a poorly understood phenomenon, although increasing data on the pathophysiology of bone in men is becoming available. Most of what we know on bone pathophysiology derives from studies on women. The well-known association between menopause and osteoporosis is far from been disproven. However, male osteoporosis is a relatively new phenomenon. Its novelty is in part compensated for by the number of studies on female osteoporosis and bone pathophysiology. On the other hand, the deeper understanding of female osteoporosis could lead to an underestimation of this condition in the male counterpart. The longer life-span exposes a number of men to the risk of mild-to-severe hypogonadism which in turn we know to be one of the pathogenetic steps toward the loss of bone mineral content in men and in women. Hypogonadism might therefore be one among many corrigible risk factors such as cigarette smoking and alcohol abuse against which clinicians should act in order to prevent osteoporosis and its complications. Treatments with calcium plus vitamin D and bisphophonates are widely used in men, when osteoporosis is documented and hypogonadism has been excluded. The poor knowledge on male osteoporosis accounts for the lack of well shared protocols for the clinical management of the disease. This review focuses on the clinical approach and treatment strategy for osteoporosis in men with particular attention to its relationship with male hypogonadism.
Methods: Patients and controls underwent a standard GHRH+ Arg test; demographics, anthropometric,... more Methods: Patients and controls underwent a standard GHRH+ Arg test; demographics, anthropometric, metabolic and hormonal variables were evaluated. Basal serum GH, IGF-1, IGFBP-3, glycaemic-lipid profile, GH after GHRH+ Arg and HIV disease characteristics were assessed. Body composition was evaluated by DXA in patients and controls, abdominal CT scan being performed only in the HIV patients. Results: Using cut-offs of 4.2 and 5 ng/ml, 6.12% of the HIV-infected patients failed to reach GH peaks above these values, the ...
Results: Total number of valid erections, total duration of rigidity> 60% and total duration o... more Results: Total number of valid erections, total duration of rigidity> 60% and total duration of increase in penile tumescence> 30 mm showed constant lower values in the 4 groups of men over 50 years, when compared with the 4 groups of men with age range 30–49 years and with the same testosterone level. Moreover, when comparing groups of men with same age but different testosterone levels, a threshold was identified still for the previous 3 parameters: the more the T is lower than 8 nmol/L, the more sleep-related erections are ...
Peutz-Jeghers Syndrome (PJS) is a rare dominantly inherited disease characterized by hamartomatou... more Peutz-Jeghers Syndrome (PJS) is a rare dominantly inherited disease characterized by hamartomatous small bowel polyposis, mucocutaneous hyperpigmentation, and increased risk of cancer. Differentiated thyroid cancers (DTCs) present mainly as sporadic, but they may have also a familial component. We present a case of PJS in a caucasian 25 years-old woman, who developed a DTC. The patient had a palpable nodule in the right side of the thyroid region and an endocrinological evaluation, including hormonal assays, neck ultrasound (US) and fine needle aspiration (FNAB) of the nodule was performed. US confirmed a single nodular lesion in the right thyroid lobe (14 mm). Cytological analysis at FNAB revealed a pattern compatible with papillary thyroid carcinoma. The histological analysis after total thyroidectomy confirmed the diagnosis of a Hurtle cell variant of papillary thyroid carcinoma, with follicular architecture. Even though rare, the association between PJS and DTC can be possible. In clinical practice it must be borne in mind that the wide spectrum of possible cancer diseases occurring in PJS could also include DTC, that the latter can occur earlier in life in PJS population and with a more aggressive histological pattern. Furthermore, in patients with PJS, US of the thyroid should be performed whenever thyroid disease is suspected at physical examination or based on patient&amp;amp;amp;amp;amp;amp;#39;s medical history. Due to lack of established data allowing for a real esteem of the association between PJS and DTC, US of the thyroid, should not be recommended as a routine screening for all subjects with PJS.
FAP is a dominant autosomic syndrome, due to mutation of the APC oncosuppressor gene, characteris... more FAP is a dominant autosomic syndrome, due to mutation of the APC oncosuppressor gene, characterised by adenomatous polyps at the colon–rectal level, that progres to malignant degeneration. FAP extraintestinal manifestations include, although rare, the thyroid nodules and tumours. Neck ultrasound (US) is routinely useful to identify thyroid nodules, but the characterisation of their nature requires the cytology by a FNAb. The exact incidence of the thyroid tumours on FAP syndrome is unknown. ... Aim: To evaluate the prevalence of thyroid nodules and tumours in a ...
Descriptions of new cases of human aromatase deficiency are useful for a better understanding of ... more Descriptions of new cases of human aromatase deficiency are useful for a better understanding of male oestrogen pathophysiology, as some aspects remain controversial. To present a new case of an adult man affected by aromatase deficiency, along with a description of clinical phenotype, and hormonal and genetic analysis. Case report study. A 25-year-old man with continuing linear growth, eunuchoid body habitus and diffuse bone pain. Amplification and sequencing of all coding exons with their flanking intronic sequences of the CYP19A1 gene. Aromatase expression of the mutant human cDNAs was compared with wild type. Serum LH, FSH, testosterone, oestradiol, insulin, glucose, glycosylated haemoglobin (HbA1c), serum lipids and liver enzymes were measured. Histological analysis of liver and testis biopsies was performed. Two novel heterozygous compound inactivating mutations of the CYP19A1 gene were disclosed. The first mutation is at bp380 (T--&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;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;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;amp;amp;amp;amp;amp;amp;amp;amp;gt;G) in exon IV and the second one at bp 1124 (G--&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;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;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;amp;amp;amp;amp;amp;amp;amp;amp;gt;A) in exon IX. LH and testosterone were normal, FSH was slightly elevated, and serum oestradiol undetectable. The subject showed a metabolic syndrome characterized by abdominal obesity, hyperinsulinaemia, acanthosis nigricans and nonalcoholic fatty liver disease. These novel mutations improve our knowledge on genetics of the CYP19A1 gene. This new case of aromatase deficiency sheds new light on the heterogeneity of mutations in the CYP19A1 gene causing loss of function of the aromatase enzyme. The evidence of metabolic syndrome and of obesity associated with congenital oestrogen deprivation emphasizes the role of oestrogens in fat accumulation and distribution in men, a role that has long been partially overlooked in these patients.
The Endocrine Society's 93rd Annual Meeting & Expo, June 4–7, 2011 - Boston, 2011
Methods: Basal serum fasting glucose, insulin, fructosamine, HbA1c, total, HDL-, LDL-cholesterol,... more Methods: Basal serum fasting glucose, insulin, fructosamine, HbA1c, total, HDL-, LDL-cholesterol, triglycerides, LH, FSH, total testosterone (T), estradiol and stimulated LH and FSH after a standard GnRH test. Results: A positive percentage increase from baseline of testosterone was observed in men with HbA1c≥ 9% at baseline after glycaemic control had been achieved, while in men with HbA1c< 9% a minimal decrease of testosterone was recorded, the mean percentage increase from baseline of group with HbA1c≥ 9% being ...
Journal of Endocrinological Investigation, Feb 1, 2005
Male age-related bone loss is caused at least in part from hypogonadism that occurs with advancin... more Male age-related bone loss is caused at least in part from hypogonadism that occurs with advancing age. Recently, the study of sex steroids on bone physiology in men has highlighted the central role of estrogens on bone pathophysiology. This review focuses on the relative role of sex steroids on bone loss in aging men.
The Endocrine Society's 93rd Annual Meeting & Expo, June 4–7, 2011 - Boston, 2011
Methods: Measurement of T and serum LH in 111 hypogonadic HIV positive outpatients aged 31–68 yea... more Methods: Measurement of T and serum LH in 111 hypogonadic HIV positive outpatients aged 31–68 years (mean 46.3 years) at baseline and after 12 months. Results: Mean T value at baseline was 235.8 ng/dl. After 12 months, 36 subjects (32.4%) had no change in T (a variation of< 50 ng/ml), 3 patients (2.7%) had a decrease (more than 50 ng/ml) and 72 patients (64.9%) had an increase in T (more than 50 ng/ml). 63 patients (56.7%) normalized T (> 300 ng/ml). Mean T value at baseline of the 63 patients who restored T was 236.3± ...
Subjects and methods: We included 35 HIV-infected female patients (mean age 44.6±7.6 SD) with lip... more Subjects and methods: We included 35 HIV-infected female patients (mean age 44.6±7.6 SD) with lipodystrophy according to the Marrakech scale. We investigated their GH response to standardised GHRH-arginine testing in order to compare it with BMI, VAT and subcutaneous adipose tissue (SAT) evaluated by CT scan. On the basis of current clinical guidelines we considered a severely impaired GH secretion (IGHS) when the GH peak after GHRH-arginine testing was ≤5 μg/L; a mildly IGHS when it was >5 μg/L but <9 μg/L and a normal GH secretion with a ...
In adult aromatase-deficient men, estrogen treatment has always resulted in a rapid skeletal matu... more In adult aromatase-deficient men, estrogen treatment has always resulted in a rapid skeletal maturation with epiphyseal closure and improved BMD. Raloxifene is a SERM with proven estrogen agonist action on bone that leads to an improvement in BMD and a reduction in bone turnover. The present study reports the effects of raloxifene and transdermal estradiol treatment, respectively, on epiphyseal closure and BMD in an aromatase-deficient man, over a 24-month follow-up, with the aim of obtaining further insight into the role of estrogens in the male skeletal homeostasis. A 25-year-old Caucasian man with aromatase deficiency, a bone age of 15.3 years, unfused epiphyses and an impaired BMD was initially administered raloxifene (60 mg/day per os) for 12 months, while transdermal estradiol (25 microg twice weekly) was administered for the subsequent 12 months. During the follow-up, the effects of the two treatments on epiphyseal closure, BMD and bone turnover markers were investigated. An iliac crest bone biopsy was performed only before and after the raloxifene treatment, but it was not repeated after transdermal estradiol treatment. No changes in bone age were observed after raloxifene therapy, whereas a complete epiphyseal closure was achieved with transdermal estradiol treatment. Compared with baseline values, raloxifene treatment led to improved BMD both at the ultradistal forearm and 33% radius; the transdermal estradiol treatment resulted in a further slight increase in BMD at the 33% radius, but not at the ultradistal forearm. The baseline bone biopsy showed elevated bone remodelling in trabecular bone, while the second biopsy following raloxifene treatment revealed a decrease in remodelling. This study shows that the management of aromatase deficiency in the male cannot consider raloxifene as a first choice treatment, but should be still based on estrogen replacement treatment since in this patient the completion of bone maturation has only been obtained once estradiol substitution was performed. The present case also demonstrates that raloxifene is able to improve BMD in aromatase-deficient men.
Methods: Hormones: GH, IGF-1, IGFBP-3; abdominal CT scan for VAT and SAT measurement; DEXA for th... more Methods: Hormones: GH, IGF-1, IGFBP-3; abdominal CT scan for VAT and SAT measurement; DEXA for the measurement of lean and fat body mass. Measurements were performed at baseline and after 24 months. Results: Serum IGF-1 (mean+SD: 130.2±48.2 at baseline, 175.1±55.4 ng/ml at 24 months; P< 0.01) and IGFBP3 (mean+SD: 2901.16±1328.4 at baseline 4315.6±1150.3 ng/ml at 24 months; P< 0.0001) increased significantly only in Group 2, as expected. VAT decreased in Group 2 (from 195.3±75.3 to 158.3±46.9 cm 2), ...
Journal of Endocrinological Investigation, Feb 1, 2003
Sexual behavior is mainly controlled by cognitive functions in men, though hormones, particularly... more Sexual behavior is mainly controlled by cognitive functions in men, though hormones, particularly sex steroids, may modulate some aspects of male sexuality. This review focuses on the role of both estrogens and androgens on male sexual desire, starting from both animal and human studies. Estrogens could play a role in human male sexual activity, similarly to what happens in animals, but even though physiological levels of estrogens could be probably required for a completely normal male sexual behavior, testosterone remains the major determinant of human male sexual behavior.
Methods: Measurement of serum total testosterone, LH and FSH in 950 outpatients aged 20–69 years ... more Methods: Measurement of serum total testosterone, LH and FSH in 950 outpatients aged 20–69 years (mean age 45.5 years) attending the metabolic clinic of infectious and tropical disease between 2005 and 2009. Results: Mean serum total testosterone was 470.9±205.5 ng/dl. Considering Endocrine Society thresholds for hypogonadism, 15.7% of patients was hypogonadic (T< 300 ng/dl);(8% hypogonadotropic, 77.2% normogonadotropic and 14.8% hypergonadotropic). According to thresholds proposed by the International Society for the ...
Journal of Reproduction and Contraception, May 28, 2015
The concept concerning the role of estrogens in male reproduction is a recent acquisi—tion in rep... more The concept concerning the role of estrogens in male reproduction is a recent acquisi—tion in reproductive endocrinology [.. 21. In the beginning of this decade, estrogens were&quot; on—sidered essential for life according to the f inding of estrogen receptors at a very earl2-stage of embryonic development. It was thought that estrogen insensitivity would be a lethal con—dition as a consequence of defectixre implantation of the blastocys (.・. In the last l 0 vears a large variety of biological effects of estrogens have been progressively discovered at ...
Objective-Few studies have examined the impact of viral hepatitis on bone mineral density (BMD), ... more Objective-Few studies have examined the impact of viral hepatitis on bone mineral density (BMD), and none have done so among HIV-infected patients. Our objective was to determine if viral hepatitis was associated with low BMD in HIV.
Background: Prevalence and factors associated with sexual dysfunction in HIV-positive women are p... more Background: Prevalence and factors associated with sexual dysfunction in HIV-positive women are poorly known. Methods: This was a cross-sectional study in a cohort of HIV-infected women. Clinically stable women were invited to participate in a female sexual dysfunction (FSD) evaluation with Female Sexual Function Index (FSFI) exploring desire, arousal, lubrication, orgasm, pain and satisfaction. An FSFI score <23 was used for defining FSD. Variables evaluated included body appearance satisfaction, interference of body changes with habits, social life and attitudinal aspects of body image, health-related quality of life, hormonal assessment, menopause, cumulative exposure to antiretroviral drug classes and immune-virological parameters. Lipodystrophy was defined according to the HIV Outpatient Study definition. Results: A total of 185 women completed the FSFI. The mean (±sd) age was 42 years (±5), 27% had CDC stage C, the mean (±sd) CD4 + T-cell count was 508 cells/µl (±251) and median HIV RNA was 1.7 log 10 copies/ ml (interquartile range 1.7-2.6). Among 161 evaluable patients, 59 (32%) reported FSD. In a multiple linear regression analysis, desire, arousal and satisfaction domains were associated with interference of body changes with habits, social life and attitudinal aspects of body image (β=0.22, 95% confidence interval [CI] 0.06-0.37; β=0.29, 95% CI 0.10-0.48; and β=0.20, 95% CI 0.02-0.38, respectively). Lubrication and orgasm domains were associated with body image satisfaction (β=-0.49, 95% CI -0.88--0.10 and β=-0.58, 95% CI -1.00--0.16, respectively). No significant associations with sex hormones, CDC stage, CD4 + T-cell count, HIV RNA viral load and cumulative exposure to antiretroviral drug classes were found. In women with FSD, severity of self-perceived abdominal fat accumulation showed a trend towards lower FSFI scores (ANOVA P=0.02).
Results: Ct-FNAB levels in nodules with MTC or C-Cells Hyperplasia (CCH) was significantly (P<... more Results: Ct-FNAB levels in nodules with MTC or C-Cells Hyperplasia (CCH) was significantly (P< 0.0001) higher than in hyperplastic nodules and than serum Ct (P= 0.02). The sensitivity and the specificity for basal Ct were 100 and 18.2% respectively. The sensitivity for Pg-test resulted 100%, and the specificity 95.4%. Cytology sensitivity was very low (10%) with a specificity of 95.4%. The ROC curves showed that both Ct-FNAB and Pg-test to correctly distinguish MTC or CCH nodules from hyperplastic nodules better than ...
Age-related bone loss in men is a poorly understood phenomenon, although increasing data on the p... more Age-related bone loss in men is a poorly understood phenomenon, although increasing data on the pathophysiology of bone in men is becoming available. Most of what we know on bone pathophysiology derives from studies on women. The well-known association between menopause and osteoporosis is far from been disproven. However, male osteoporosis is a relatively new phenomenon. Its novelty is in part compensated for by the number of studies on female osteoporosis and bone pathophysiology. On the other hand, the deeper understanding of female osteoporosis could lead to an underestimation of this condition in the male counterpart. The longer life-span exposes a number of men to the risk of mild-to-severe hypogonadism which in turn we know to be one of the pathogenetic steps toward the loss of bone mineral content in men and in women. Hypogonadism might therefore be one among many corrigible risk factors such as cigarette smoking and alcohol abuse against which clinicians should act in order to prevent osteoporosis and its complications. Treatments with calcium plus vitamin D and bisphophonates are widely used in men, when osteoporosis is documented and hypogonadism has been excluded. The poor knowledge on male osteoporosis accounts for the lack of well shared protocols for the clinical management of the disease. This review focuses on the clinical approach and treatment strategy for osteoporosis in men with particular attention to its relationship with male hypogonadism.
Methods: Patients and controls underwent a standard GHRH+ Arg test; demographics, anthropometric,... more Methods: Patients and controls underwent a standard GHRH+ Arg test; demographics, anthropometric, metabolic and hormonal variables were evaluated. Basal serum GH, IGF-1, IGFBP-3, glycaemic-lipid profile, GH after GHRH+ Arg and HIV disease characteristics were assessed. Body composition was evaluated by DXA in patients and controls, abdominal CT scan being performed only in the HIV patients. Results: Using cut-offs of 4.2 and 5 ng/ml, 6.12% of the HIV-infected patients failed to reach GH peaks above these values, the ...
Results: Total number of valid erections, total duration of rigidity> 60% and total duration o... more Results: Total number of valid erections, total duration of rigidity> 60% and total duration of increase in penile tumescence> 30 mm showed constant lower values in the 4 groups of men over 50 years, when compared with the 4 groups of men with age range 30–49 years and with the same testosterone level. Moreover, when comparing groups of men with same age but different testosterone levels, a threshold was identified still for the previous 3 parameters: the more the T is lower than 8 nmol/L, the more sleep-related erections are ...
Peutz-Jeghers Syndrome (PJS) is a rare dominantly inherited disease characterized by hamartomatou... more Peutz-Jeghers Syndrome (PJS) is a rare dominantly inherited disease characterized by hamartomatous small bowel polyposis, mucocutaneous hyperpigmentation, and increased risk of cancer. Differentiated thyroid cancers (DTCs) present mainly as sporadic, but they may have also a familial component. We present a case of PJS in a caucasian 25 years-old woman, who developed a DTC. The patient had a palpable nodule in the right side of the thyroid region and an endocrinological evaluation, including hormonal assays, neck ultrasound (US) and fine needle aspiration (FNAB) of the nodule was performed. US confirmed a single nodular lesion in the right thyroid lobe (14 mm). Cytological analysis at FNAB revealed a pattern compatible with papillary thyroid carcinoma. The histological analysis after total thyroidectomy confirmed the diagnosis of a Hurtle cell variant of papillary thyroid carcinoma, with follicular architecture. Even though rare, the association between PJS and DTC can be possible. In clinical practice it must be borne in mind that the wide spectrum of possible cancer diseases occurring in PJS could also include DTC, that the latter can occur earlier in life in PJS population and with a more aggressive histological pattern. Furthermore, in patients with PJS, US of the thyroid should be performed whenever thyroid disease is suspected at physical examination or based on patient&amp;amp;amp;amp;amp;amp;#39;s medical history. Due to lack of established data allowing for a real esteem of the association between PJS and DTC, US of the thyroid, should not be recommended as a routine screening for all subjects with PJS.
FAP is a dominant autosomic syndrome, due to mutation of the APC oncosuppressor gene, characteris... more FAP is a dominant autosomic syndrome, due to mutation of the APC oncosuppressor gene, characterised by adenomatous polyps at the colon–rectal level, that progres to malignant degeneration. FAP extraintestinal manifestations include, although rare, the thyroid nodules and tumours. Neck ultrasound (US) is routinely useful to identify thyroid nodules, but the characterisation of their nature requires the cytology by a FNAb. The exact incidence of the thyroid tumours on FAP syndrome is unknown. ... Aim: To evaluate the prevalence of thyroid nodules and tumours in a ...
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Papers by Lucia Zirilli