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

研究成果: Article査読

11 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)83-87
ページ数5
ジャーナルHormone Research in Paediatrics
48
2
DOI
出版ステータスPublished - 1997 1 1

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学

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