A rare case of 17α-hydroxylase deficiency after gonadectomy
17α-Hydroxylase is an enzyme that converts pregnenolone and progesterone to 17α-hydroxypregnenolone and 17α-hydroxyprogesterone, which are the precursors of sex steroids and cortisol. 17α-Hydroxylase deficiency (17OHD) is a recessively inherited autosomal disease caused by mutations in the CYP17A1 gene. This is a case of a 29-year-old woman who had undergone gonadectomy in her childhood due to complete androgen insensitivity syndrome (AIS) and was diagnosed with 17OHD in adulthood.

An 11-year-old Japanese girl was transferred to the University of Tsukuba Hospital for inspective examination for ambiguous genitalia. From visual inspection of the external genital area, a raised lesion with pigmentation and plicae that looked like fused labia were noted. Behind the lesion, there was an external urethral opening without an inlet for a vagina.

Magnetic resonance imaging showed no uterine corpus or vagina in the pelvis and revealed small tumors in the bilateral inguinal position that looked like the testes. The patient’s karyotype was determined as 46,XY, without any electrolyte abnormality. Gonadectomy and episioplasty were performed on the basis of diagnosis of complete AIS.

Source: Journal of Medical Case Reports

Read more: https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-019-2166-9