Manzoor, Jaida and Aftab, Sommayya and Yaqoob, Muhammad (2019) Ambiguous genitalia: An overview of 7 years experience at the Children’s Hospital & Institute of Child Health, Lahore, Pakistan: Ambiguous genitalia. Pakistan Journal of Medical Sciences, 35 (1). pp. 151-155. ISSN 1682-024X
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Abstract
Objective: To determine the classification and etiological diagnosis of children presented with ambiguous genitalia/atypical genitalia according to the newer classification system of Disorder of Sex Development (DSD).
Methods: This observational, cross-sectional study was conducted at the Department of Pediatric Endocrinology and Diabetes at The Children’s Hospital &Institute of Child Health, Lahore from January, 2007 to December; 2014. Files of all the children with ambiguous genitalia were retrospectively analyzed and relevant data was retrieved. All the information was recorded on predesigned proforma and analyzed accordingly.
Results: A total of 300 cases of ambiguous genitalia classified according to the new DSD classification. 46, XX DSD were 54.3% (n=163), 46, XY DSD were 43.7% (n=131), sex chromosome DSD were 2% (n=6). Among 46, XX DSD cases, the most common cause was congenital adrenal hyperplasia (97%, n=158). However, in 46, XY DSD partial androgen insensitivity/5α-reductase deficiency (62%. n=81) constituted the most commonest disorder. Other causes of 46XY DSD include testosterone synthesis defect(23%), congenital adrenal hyperplasia (CAH,12%), testis regression syndrome (1.5%) and persistent mullerian duct syndrome (PMDS,1.5%). Sex chromosome disorder constituted one case of iso-chromosome X turner syndrome, mixed gonadal dysgenesis (n=3), ovotesticular DSD/chimerism (n=2).
Conclusion: Ambiguous genitalia have varied etiologies, 46; XXDSD found being the commonest of all, showing predominance of CAH especially salt loosing type. The early detection and prompt treatment of cases of ambiguous genitalia plays a pivotal role in the management of acute life threatening condition and gender assignment.
Item Type: | Article |
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Subjects: | ScienceOpen Library > Medical Science |
Depositing User: | Managing Editor |
Date Deposited: | 27 Apr 2023 04:53 |
Last Modified: | 17 Oct 2024 04:05 |
URI: | http://scholar.researcherseuropeans.com/id/eprint/1092 |