Abstract
Ambiguous Genitalia, a rare genetic disorder is caused by defects in the process of fetal sexual determination and differentiation where a newborn needs prompt evaluation to detect lethal conditions and gender assignment. This genetic screening is taken up with an aim to evaluate the prevalence of the patients born with Ambiguous Genitalia existing in our population. We evaluated the patients for Ambiguous Genitalia with Polymerase Chain Reaction (PCR) using SRY gene and cytogenetic analysis for detecting X and Y chromosome was performed by conventional Karyotyping. Of the 50 Ambiguous Genitalia cases, 21 (42.0 %) were detected positive for SRY gene with 46, XY Karyotype and were recognized as males while as rest of cases 29 of 50 (58%) were confirmed as females by negative SRY gene coupled with 46, XX Karyotype. All the 21 cases positive for SRY gene were cytogenetically evaluated with 46, XY except two cases, one of testicular feminization syndrome and another case of AIS where a Karyotype revealed 46, XY but were negative for SRY gene. 09 of the 50 cases (18%) had undetermined sex and among these 05 (55.5%) were found to be negative for SRY gene with 46, XX Karyotype except one case with 47, XX which was an Edward’s syndrome. 04 of the 09 cases (45.5%) were detected as males with positive SRY gene. Overall 04 cases (08.0 %) that were socially recognized as female for two decades were confirmed to be carrying Y chromosome as depicted by positive SRY gene with 46, XY Karyotype. We found that newborn with Ambiguous Genitalia exist in our region in a good number and the cytogenetic method coupled with molecular analysis by PCR are essential to unfold the sex and help in proper assignment of gender in intersex disorders.
Highlights
Abnormalities in normal sexual differentiation are relatively common and occur in approximately 1 per 4500 live births [1]
This study was conducted with an aim to determine the prevalence of the newborn children and young patients with Ambiguous Genitalia existing in Kashmir (North India).We evaluated the patients for Ambiguous Genitalia with Polymerase Chain Reaction (PCR) using SRY gene and cytogenetic analysis for detecting X and Y chromosome was performed by conventional Karyotyping
The study included 50 patients referred to the Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Science (SKIMS), for both molecular and chromosomal analysis to rule out Ambiguous Genitalia
Summary
Abnormalities in normal sexual differentiation are relatively common and occur in approximately 1 per 4500 live births [1]. Intersex disorders are rare congenital malformations and the reported incidences of the different malformations with over 80% being diagnosed with Congenital Adrenal Hyperplasia (CAH) in addition to other causes like True Hermaphroditism, Gonadal dysgenesis, Pseudohermaphroditism. Ambiguous Genitalia in the newborn and children need immediate and rational management and assignment of sex for rearing should be guided by the etiology of the genital malformation [2, 3]. The main factor influencing the sex determination of an embryo is the genetic sex determined by the presence or absence of the Y chromosome [4]. Some individuals carry a Y chromosome but are phenotypically female (46, XY females) or have a female Karyotype but are phenotypically male (46, XX males). 46, XX maleness is a rare sex reversal syndrome affecting 1 in 20,000 newborn males.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
