3β-Hydroxysteroid dehydrogenase deficiency (3β-HSDD). Steroid studies in a girl with pubertal bone age (BA)

Abstract

A 14.7 yr old girl with known 3β-HSDD was reevaluated for small stature and insufficient puberty. Height was 146 cm, BA 12 yrs, pubic hair stage 3 and breast 2. On regular cortisol (F) (20 mg and fludrocortisone 0.05 mg), plasma (P) and urinary (U) steroids were normal or slightly high (P-DHA 800, P-17OHP 540 ng/100 ml, U-pregnanetriol (PT) 4.6 mg/24 h). LH and FSH (basal and after LHRH) were normal. Without F (1 week), P-DHA (4750), P-17OHP (3000 ng/100 ml), U-PT (94.9) and U-pregnenetriol (53.7 mg/24 h) were high and the U-F-metabolites low. On increased F (40 mg daily), P-estradiol did not respond to HMG (6 × 150 U), but P-DHA increased. This observation indicates that 1) the defect is present in the ovaries and estrogen replacement is necessary ; 2) the presence of 17OHP and PT cannot be explained by an incomplete defect, but is probably due to liver 3β-dehydrogenation ; 3) 17OHP can be used only partially for androgen and estrogen formation ; 4) the high U-PT suggests partial formation of PT from 17OH-pregnenolone.

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