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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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          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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          Horm Res Paediatr
          Hormone Research in Paediatrics
          S. Karger AG
          10 December 2008
          : 48
          : 2
          : 83-87
          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
          185492 Horm Res 1997;48:83–87
          © 1997 S. Karger AG, Basel

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          Pages: 5
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