Early diagnosis and management of 5 alpha-reductase deficiency.

摘要: Two siblings of Pakistani origin, karyotype 46 XY, were born with predominantly female external genitalia minute phallus, bifid scrotum, urogenital sinus, and palpable gonads. The older sibling at the age 8 days showed an adequate testosterone response to human chorionic gonadotrophin (hCG) stimulation. diagnosis 5 alpha-reductase deficiency was made 6 years when no alpha-reduced glucocorticoid metabolites detectable in urine even after tetracosactrin (Synacthen) In younger provisionally early 3 on basis high urinary tetrahydrocortisol (THF)/allotetrahydrocortisol (5 alpha-THF) ratio this increased confirming diagnosis. Plasma testosterone: dihydrotestosterone (DHT) before hCG stimulation within normal limits but raised 9 months. Topical DHT cream application promoted significant phallic growth both corrective surgery facilitated. prepubertal male pseudohermaphrodites or concentrations, treatment could be indirect confirmation deficiency.