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

Gayathri Krishnan, Norhayati Yahaya

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

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References

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