17β‐Hydroxysteroid dehydrogenase deficiency with minimal virilization and spontaneous reduction of serum androgens to normal female levels

Abstract

The testosterone biosynthesis defect, 17 beta-hydroxysteroid dehydrogenase deficiency, is generally characterized by marked virilization at puberty of children raised as females. We describe an unusual case with a persistent female body habitus presenting with primary amenorrhoea and mild facial hirsutism. Whilst awaiting gonadectomy, serum androgen concentrations were observed to fall spontaneously to within the adult female reference ranges. Location of the gonads was a problem and was finally achieved by magnetic resonance imaging.

Clinical, Endocrine, and Molecular Genetic Findings in Patients with 17β-Hydroxysteroid Dehydrogenase Deficiency

“…Our patient 3 of German descent is compound heterozygous for the R80Q mutation, and consequently we confirm the occurrence of the R80Q mutation outside the Arab community. As this mutation eliminates an MspI cleavage site within exon 3 [11], we confirmed the mutation both by DNA sequencing and restriction analysis.…”

“…If the gonads are not surgically removed, the majority of patients start to virilize at the time of expected puberty as a consequence of rising plasma T levels. To this date several cases of 17β-HSD deficiency have been reported [6, 7, 8, 9, 10, 11, 12, 13]; however, only a minority of them have been characterized at the molecular level [5, 14, 15, 16, 17, 18]. …”