Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency.
To obtain data on the correlation of serum and urinary steroids in nonclassical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency, 9 girls with precocious pubarche and 33 adolescent girls with mild to severe hirsutism were studied. Urinary steroid profiles were analyzed by capillary gas chromatography. Serum 17-OH-pregnenolone (17-OHPreg) and 17-OH-progesterone (17-OHP) were determined by RIA after column-chromatographic separation. One out of 9 girls with precocious pubarche and 4/33 girls with hirsutism had elevated ratios of 17-OHPreg to 17-OHP after ACTH stimulation in serum and elevated urinary excretion of 5-ene steroids under basal conditions. These patients were defined to have decreased adrenal 3 beta-HSD activity. Basal and ACTH-stimulated serum 17-OHPreg levels in patients with mild 3 beta-HSD deficiency overlapped those of healthy controls and peripubertally virilized female patients without enzyme deficiency. Post-ACTH 17-OHPreg/17-OHP ratios in serum discriminated patients with and without 3 beta-HSD deficiency using a cutoff value of 13 instead of mean + 2 SD for age-related control values (6.7 and 11.6 for girls with Tanner stage II-III and IV-V, respectively). Sums of urinary 5-ene steroids in patients with 3 beta-HSD deficiency overlapped those in patients without enzyme deficiency. Results showed that an abnormal post-ACTH serum 17-OHPreg/17-OHP ratio may not be associated with elevated urinary 5-ene steroid excretion, and vica versa. In conclusion, patients with simultaneous elevation of post-ACTH serum 17-OHPreg/17-OHP ratio and basal urinary 5-ene steroid excretion are supposed to have mild 3 beta-HSD deficiency.
Sólyom
J
J
2nd Department of Pediatrics, Semmelweis University Medical School, Budapest, Hungary.
Halász
Z
Z
Hosszú
E
E
Gláz
E
E
Vihko
R
R
Orava
M
M
Homoki
J
J
Wudy
S A
SA
Teller
W M
WM
D019326:17-alpha-Hydroxyprogesterone; D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone; D002648:Child; D005260:Female; D006628:Hirsutism / Q000097:blood / Q000378:metabolism* / Q000652:urine; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood / Q000378:metabolism / Q000652:urine; D011629:Puberty, Precocious / Q000097:blood / Q000378:metabolism* / Q000652:urine; D013256:Steroids / Q000097:blood / Q000378:metabolism* / Q000652:urine
D006908:Hydroxyprogesterones; D013256:Steroids; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D015096:3-Hydroxysteroid Dehydrogenases