Congenital adrenal hyperplasia (CAH) owing to 21 hydroxylase deficiency (21OHD) is an inherited autosomal disorder characterized by diminished glucocorticoid and aldosteron biosynthesis. Partial 21OHD leads to the classical simple virilizing form, characterized by prenatal virilization of external genitalia in female fetuses without salt wasting. Ambiguous genitalia in a genetically female infant is frequently due to CAH. The uncertainty about the sex of a newborn is often incomprehensible to most parents. Undiagnosed females can be grown as males and they are faced to multiple clinical, hormonal and metabolic abnormalities.
Case: A 33-year-old man was referred because of ambiguous genitalia. His history was unremarkable except micturation while sitting. He was married. Physical examination: He had gynecoid body habitus (147 cm, 66 kg, W/H 0.78). He was bearded. He had hypospadias and micro penis or clitoris hyperthrophy. We found out that when he was 9-year-old, he was recorded in our hospital registrations as having ambiguous genitalia with female internal genitalia. The records marked a strict male gender identity by a psycological evaluation and refusal of therapeutic managements by his parents. After 24 years, we reevaluted the case. The karyotype was 46XX. Testosteron and 17OHPG was markedly elevated. Abdominal CT showed ovaries, uterus and bilateral adrenal hyperplasia with right sided mass (30×30 mm). Biopsy was performed. Pathologic examination was consistent with adrenocortical adenoma. He/she was diagnosed as CAH due to 21OHD. Because of his/her strict male gender identity and his marrige, his/her decision was to live as a man. Accordingly, she underwent hysterectomy, oopherectomy, cliteral phrenilum construction operations. She was given glucocorticoids and androgen replacement therapy. During follow-up, 5 years later, adrenocortical adenoma was enlarged up to 8 cm. Unilateral adrenalectomy was performed. This case underlines the importance of diagnosis of CAH during infancy/childhood and lifelong follow-up which is a difficult but important task for physicians.
25 - 29 Apr 2009
European Society of Endocrinology