[Causes of ambiguous external genitalia in neonates]

Annals of Saudi Medicine, 2011

A mbiguous genitalia are a complex and often confusing medical problem. In newborns it is a matter of an emergency to decide the appropriate sex for rearing and eventually to prevent associated metabolic disturbances. Male and female embryos both have bipotential gonads that will develop into ovaries unless testes-organizing factors encoded by the Y-chromosome induce the gonads to differentiate into a testis. Somatic sexual differentiation will constitutionally develop according to a female phenotype in the absence of testicular activity. The diagnostic procedures require a number of laboratory and radiological investigations, based on a schematic and simple view of normal sexual differentiation. Sexual ambiguity may result in a male fetus either from insufficient secretion of androgens and their metabolites or insensitivity to its effects, or a female fetus with excessive secretion or

Journal of Taibah University Medical Sciences, 2010

Objective Ambiguous genitalia constitute a major social and medical emergency. This study was conducted to assess the relevant clinical significance of this important clinical entity. Methods During the period 1989-2008, eighty-one patients with ambiguous genitalia were evaluated in a Pediatric Endocrine Clinic at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia. Results Of these 53 (65.4%) were genetically females (46XX), and 28 (34.6%) were having a male genetic sex (46XY). The majority of them were proven to have congenital adrenal hyperplasia. Twenty-five (47.2%) of the genetic females were wrongly assigned a male sex due to severe virilization while only two (7.1%) of the genetic males were wrongly assigned as females. Although early neonatal diagnosis facilitates appropriate management, sociocultural factors such as a bias concerning the male gender in the community and strong influence of the grandparents constitute major management obstacle. All genetic males who were wrongly assigned as females accepted re-assignment, and four (16%) of the 25 genetic females who were wrongly assigned as males refused re-assignment. Conclusion A team approach is mandatory for successful management. Guidelines for approaching the problems are also highlighted.

Journal of Pediatric Urology, 2018

firattipdergisi.com

Objective: A newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions such as salt-losing crisis in congenital adrenal hyperplasia (CAH) and gender assignment. Sex assignment in these newborn continues to be a challenging diagnostic and therapeutic problem. In our study, we aimed to investigate the causes and characteristics of ambiguous genitalia in 21 newborn who were referred to a cytogenetic laboratory. Materials and Methods: Cytogenetic analysis was performed for each case. The cases were analysed by also molecular genetic and interphase FISH technique to exhibit exist Y. Chromosome molecular genetic analysis was performed for Y chromosomal loci (SRY, ZFY, SY84, SY86, SY127, SY134, SY254, SY255). Genomic DNA was extracted from peripheral blood. Results: In all of patient were detected 46,XX and 46,XY karyotype by cytogenetic analysis. 21 cases were successfully analyzed by interphase-FISH. Some individuals carry a Y chromosome but are phenotypically female or one of cases have a female karyotype but are phenotypically male. Conclusion: The correlation between genotype (SRY+/-) and phenotype is still unclear. The etiology of ambiguous genitalia is variable. The physician managing these families could minimize the trauma of having a child with unidentified sex by providing appropriate genetic counseling so that the parents can make an early decision.

International Journal of Endocrinology, 2016

Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia.Methods. Retrospective study during 23 years at outpatient clinic of a referral center.Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 case...

Archives of Disease in Childhood, 2004

Journal of the Endocrine Society

Context: Limited data are available on the exact incidence of disorders of sex development (DSD) with genital ambiguity at birth.

Annals of Saudi Medicine, 2004

Background: A newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions (e.g., salt-losing crisis in congenital adrenal hy perplasia [CAH]) and gender assignment. Sex assignment in these children continues to be a challenging diagnostic and therapeutic problem. We studied the causes and characteristics of ambiguous genitalia in children who were referred to a cytogenetic laboratory. Patients and Methods: We retrospectively reviewed a total of 120 medical records of patients with a primary indication of ambiguous genitalia that were referred to the cytogenetic lab for karyotyping during the period of 1989 to 1999. Diagnosis was based on a clinical impression from the primary physician, who was primarily a staff pediatrician, endocrinologist and/or pediatric urologist. Results: CAH was the underlying cause of ambiguous genitalia in 41 of 63 patients with ambiguity due to endocrine causes; 39 of these patients showed a 46,XX karyo type and 2 cases were 46,XY (both the 46,XY patients had 3 ß-hydroxylase defi ciency). In 57 patients, ambiguous genitalia were due to congenital developmental de fects. The most common endocrine case of ambiguous genitalia was 21-OH deficiency. Seven patients were classified as idiopathic with six showing the 46,XY and one the 46,XX karyotype. Gender was reassigned at birth or at diagnosis in 15 patients. Conclusion: The etiology of ambiguous genitalia is variable. The physician managing these families could minimize the trauma of having a child with unidentified sex by providing appropriate genetic counseling so that the parents can make an early deci sion. Prenatal DNA testing in at-risk families should be considered and appropriate therapy offered to minimize or prevent genital ambiguity.

2018

When the sex of the newborn child cannot be decided then it is called as ambiguous genitalia. This becomes very much stressful and serious condition for parents and doctors for which immediate and multidisciplinary approach is expected. Hormonal and genetic factors play crucial role in disorder of sex development. Case: We present a case of ambiguous genitalia with omphalocele. Blood sample of new born baby was sent to Cytogenetic laboratory for sex determination. Along with ambiguous genitalia, omphalocele, presence of uterus and testis on sonography, patent ductus arteriosus was present. Karyotyping was done which revealed 46, XY, add 5p (15.3). The hypothesis of relation between karyotyping report and clinical symptoms is presented in this case. Conclusion: Karyotyping is a gold standard method in case of ambiguous genitalia.

Journal of Paediatrics and Child Health, 2001

Is it a boy or a girl?' This is often the first question asked when a baby is born. The newborn in which sex of rearing is not immediately clear presents a diagnostic challenge to the physician and an emotional crisis for the family. A well organized multidisciplinary approach to the diagnosis and management of this situation is of paramount importance. Medical conditions associated with ambiguous genitalia can be life threatening if not detected and diagnosed soon after birth, as in the case of salt losing congenital adrenal hyperplasia. In all cases, rapid appropriate gender assignment and a combined medical, surgical and psychological management approach is essential.

European Journal of Endocrinology, 2008

Disorders of sex development (DSD) include a heterogeneous group of heritable disorders of sex determination and differentiation. This includes chromosomal as well as monogenic disorders, which inhibit or change primarily genetic or endocrine pathways of normal sex development. However, in many patients affected, no definitive cause for the disorder can be found. Therefore, the birth of a child with ambiguous genitalia still represents an enormous challenge. For the structuring of diagnostic procedures, decision making and also therapeutic interventions, a highly specialised team of physicians of different subspecialties and experts for psychosocial care is needed to counsel parents and patients accordingly. This article presents a case with 46,XX DSD and androgen excess. After making the diagnosis on clinical and biochemical grounds, the family refused further genetic testing. The outcome of subsequent pregnancies confirmed the working diagnosis of an autosomal form of 46,XX DSD. H...

RadioGraphics, 2008

Disorders of sex development (DSDs) are congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical. DSDs can be classified broadly into four categories on the basis of gonadal histologic features: female pseudohermaphroditism (46,XX with two ovaries); male pseudohermaphroditism (46,XY with two testes); true hermaphroditism (ovotesticular DSD) (both ovarian and testicular tissues); and gonadal dysgenesis, either mixed (a testis and a streak gonad) or pure (bilateral streak gonads). Imaging plays an important role in demonstrating the anatomy and associated anomalies. Ultrasonography is the primary modality for demonstrating internal organs; genitography is used to assess the urethra, vagina, and any fistulas or complex tracts; and magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management. ©

Ultrasound in Obstetrics and Gynecology, 2010