Case Report of an Adult Female with Neglected Congenital Adrenal Hyperplasia (CAH)

Abstract

An apparently well 27-year-old phenotypically male adult was seen at the endocrine clinic for gender assignment. Patient had been raised as a male and identifies as such. Abdominal CT scan showed a unilateral left adrenal mass and karyotyping revealed 46 XX female karyotype. She was diagnosed to have simple virilizing CAH and needed thorough counselling with subsequent management by a multidisciplinary team.

Keywords

• Congenital Adrenal Hyperplasia (CAH)
• 17-hydroxyprogesterone
• gender assignment