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      Pubertal Changes in Testicular 3β-Hydroxysteroid Dehydrogenase Activity in a Male with Classical 3β-Hydroxysteroid Dehydrogenase Deficiency Showing Spontaneous Secondary Sexual Maturation

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          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 Δ<sup>5</sup> to Δ<sup>4</sup> 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 Δ<sup>4</sup>-steroid precursors would convert to testosterone.

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          Author and article information

          Journal
          HRE
          Horm Res Paediatr
          10.1159/issn.1663-2818
          Hormone Research in Paediatrics
          S. Karger AG
          1663-2818
          1663-2826
          1997
          1997
          10 December 2008
          : 48
          : 2
          : 83-87
          Affiliations
          aDepartment of Pediatrics, Nagasaki, University School of Medicine, Nagasaki; bDepartment of Pediatrics, Hokkaido University School of Medicine, Sapporo, and cDepartment of Pathology, TohokuUniversity School of Medicine, Sendai, Japan
          Article
          185492 Horm Res 1997;48:83–87
          10.1159/000185492
          9251925
          © 1997 S. Karger AG, Basel

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          Page count
          Pages: 5
          Categories
          Case Report

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