Ambiguous Genitalia is a birth defect where the external genitals do not have the typical appearance of either a boy or girl. Congenital Adrenal Hyperplasia is a inherited disease with an incidence of 1:10,000 births. It is caused most commonly due to 21-Hydrolase deficiency (21-OHD). In this condition the affected individuals shows impaired cortisol secretion, over secretion of ACTH and ambiguous genitalia to a variable degree. In the present study we report a preterm newborn female with 46 XX chromosomes presenting Ambiguous Genitalia with Adrenal Hyperplasia.
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