Open AccessCongenital Adrenal Hyperplasia in Patients with Disorders of Sexual Differentiation
Author(s) -
Warda Fatima,
Tayyaba Rafiq,
Saqib Mahmood
Publication year - 2020
Publication title -
the journal of microbiology and molecular genetics
Language(s) - English
Resource type - Journals
eISSN - 2788-8312
pISSN - 2707-6431
DOI - 10.52700/jmmg.v1i3.10
Subject(s) - congenital adrenal hyperplasia , virilization , sexual differentiation , sex organ , medicine , pseudohermaphroditism , disorders of sex development , endocrinology , pediatrics , physiology , androgen , biology , hormone , genetics , gene
Congenital Adrenal Hyperplasia (CAH) is considered to be the most common cause of genital ambiguity in children. According to World’s literature, 90-95% of this disease is caused by 21-hydroxylase deficiency that impairs the synthesis of cortisol and aldosterone. The consequent excess in androgen production leads to virilization in the affected females. This study was aimed to find the number of cases with CAH (21-hydroxylase deficiency) in the children presented with disorders of sexual differentiation. For this purpose, 100 patients presented to The Children’s hospital for gender assessment were taken and their 17- OH progesterone levels were measured to confirm 21-hydroxylase deficiency, and chromosomal analysis was done to confirm chromosomal sex. Results indicated that out of 100 patients 49 were suffering from CAH. 63.2% of CAH patients were initially presented as males. Out of these, 44.8% were reassigned female gender on chromosomal analysis. So, it is concluded that the majority of patients presented with genital ambiguity in the tertiary care health facility have the ambiguity due to congenital adrenal hyperplasia.