Male pseudohermaphroditism due to 17-hydroxylase deficiency.
A 27-year-old phenotypic female presented with primary amenorrhea, severe hypertension, and hypokalemia. At the age of puberty sexual development had not occurred; in particular, sexual hair had not grown. Past history revealed an episode of subarachnoid hemorrhage and several episodes of ventricular tachyarrhythmia. Karyotype was 46, XY. The steroids requiring 17-hydroxylation (cortisol, testosterone, pregnanetriol, 17-ketosteroids, 17-hydroxycorticosteroids) were low, while those not requiring 17-hydroxylation (progesterone, deoxycorticosterone, corticosterone) were high, demonstrating 17-hydroxylase deficiency. The corticosterone/deoxycorticosterone ratio was relatively low, suggesting an associated partial deficiency of 11-hydroxylase.
D'Alberton
A
A
Clinica Ostetrica e Ginecologica I, Università di Milano, Italy.
Reschini
E
E
Motta
T
T
Catania
A
A
D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D000568:Amenorrhea / Q000209:etiology; D012734:Disorders of Sex Development / Q000209:etiology*; D005260:Female; D006801:Humans; D006973:Hypertension / Q000209:etiology; D007008:Hypokalemia / Q000209:etiology; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013256:Steroids / Q000097:blood / Q000652:urine
D013256:Steroids; D013250:Steroid Hydroxylases