Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency

• Published in: Hormone research Vol. 44; no. 3; p. 133
• Main Authors: Sólyom, J, Halász, Z, Hosszú, E, Gláz, E, Vihko, R, Orava, M, Homoki, J, Wudy, S A, Teller, W M
• Format: Journal Article
• Language: English
• Published: Switzerland 1995
• Subjects: 17-alpha-Hydroxyprogesterone; 3-Hydroxysteroid Dehydrogenases - deficiency; Adolescent; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Child; Female; Hirsutism - blood; Hirsutism - metabolism; Hirsutism - urine; Humans; Hydroxyprogesterones - blood; Hydroxyprogesterones - metabolism; Hydroxyprogesterones - urine; Puberty, Precocious - blood; Puberty, Precocious - metabolism; Puberty, Precocious - urine; Steroids - blood; Steroids - metabolism; Steroids - urine
• ISSN: 0301-0163
• DOI: 10.1159/000184613

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.