Abstract
Males with classical 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency manifest appropriate secondary sexual maturation with an elevation in serum testosterone levels at pubertal age. To define the origin of serum testosterone, we evaluated a male patient with classical 3β-HSD who showed pubertal development. High values of testosterone and a ratio of Δ5 to Δ4 steroids in the spermatic vein indicated direct production of considerable amounts of testosterone and a persistent defect of 3β-HSD activity in the gonad. Immunohistochemical analysis showed distinct immunoreactivity in the Leydig cells of the patient. The patient was homozygous for a nonsense mutation in the type-II 3β-HSD gene. We propose that gonadal type-I 3β-HSD could be expressed by gonadotropin stimulation at pubertal age, and Δ4-steroid precursors would convert to testosterone.
Original language | English |
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Pages (from-to) | 83-87 |
Number of pages | 5 |
Journal | Hormone Research in Paediatrics |
Volume | 48 |
Issue number | 2 |
DOIs | |
Publication status | Published - 1997 Jan 1 |
Keywords
- 3β-Hydroxysteroid dehydrogenase deficiency
- Congenital adrenal hyperplasia
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism
- Endocrinology