Background: One of the rarely documented endocrine disorders in African setting is pseudo-haemaphroditism. Female pseudo-haemaphroditism (virilized female) is characterized by the presence of 46XX karyotype, ovaries, normal mullerian duct structures, absent wolffian duct structures and virilised genitalia due to androgens in-utero. The commonest cause is Congenital Adrenal Hyperplasia.
Aim: To highlight the challenge in investigating and managing female pseudo-haemaphrodite in a resource-limited setting.
Case presentation: Twenty-one year-old male secondary school drop-out referred from a secondary health facility on account of recurrent bilateral groin pain of 5 months duration with ultrasound scan report of bilateral small testes. Pain was located in the iliac fossae radiating to the groin and cyclical lasting for about 14 days per month. Theres history of delayed puberty, small penis and progressive enlargement of both breasts at puberty. He is the 2 nd of a set of twins. The second twin is a female who has given birth to a male child. Examination: a young man with no beard, sparse axillary hair, fully developed breasts, (Tanner stage V), female escutcheon, micropenis: penile length = 4 cm, right testis < 2 mls, left scrotal sac empty. Height = 157 cm, BMI = 19.27 kg/m2. Pelvic ultrasound revealed intact uterus with tubes and ovaries.
CONCLUSION: Gender re-assignment requires multi-disciplinary approach but the patient is faced with financial, social, cultural and religious barriers. The sex rearing of this index case for the past 21 years is strongly at variance with the true sex of the patient thus resulting in psychological trauma and gender confusion at counseling sessions.
Keywords: Pseudo-haemaphroditism, virilized female, gender re-assignment, delayed puberty.