Pubertal changes in testicular 3β-hydroxysteroid dehydrogenase activity in a male with classical 3β-hydroxysteroid dehydrogenase deficiency showing spontaneous secondary sexual maturation

Masaaki Yoshimoto, Tomoko Kawaguchi, Ryogo Mori, Ei Ichi Kinoshita, Tsuneyoshi Baba, Toshihiro Tajima, Kenji Fujieda, Takashi Suzuki, Hironohu Sasano

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

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 languageEnglish
Pages (from-to)83-87
Number of pages5
JournalHormone Research in Paediatrics
Volume48
Issue number2
DOIs
Publication statusPublished - 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

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