Congenital Adrenal Hyperplasia in Siblings

Congenital Adrenal Hyperplasia in Siblings
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Title:Congenital Adrenal Hyperplasia in Siblings
Author/Abstract:

Melonil P. Cabahug, MD; Victor Federico B. Acepcion, MD and Marie Carmela M. Lapitan, MD

Division of Urology, Department of Surgery, Philippine General Hospital, University of the Philippines Manila

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders of adrenal steroidogenesis with an overall incidence of 1/14,500 live births. It follows a Mendelian form of inheritance with a 25% chance of a child to manifest the symptoms when born from heterozygous parents. Deficiency of 21-hydroxylase is one of the most common causes for ambiguous genitalia. In utero virilization of the fetus consists of clitoral enlargement and vaginal atresia resulting in a urogenital sinus and labioscrotal fusion. We report a case of 3 siblings afflicted with CAH presenting with ambiguous genitalia born from normal, non-consanguineous parents.

Key words: congenital adrenal hyperplasia, ambiguous genitaliae

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