Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1

Yuka Wada, Michiyo Okada, Tomonobu Hasegawa, Tsutomu Ogata

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Steroidogenic factor-1 (SF-1) regulates the transcription of multiple genes involved in the androgen biosynthesis, and SF-1 Gly146Ala polymorphism is known to reduce the transactivation function by ∼20%. To examine whether the Gly146Ala polymorphism constitutes a susceptibility factor for the development of micropenis (MP), we analyzed this polymorphism in a total of 52 patients with micropenis (T-MP) consisting of 30 patients with severe MP below -2.5 SD (S-MP) and 22 patients with mild MP from -2.1 SD to -2.5 SD (M-MP), together with 115 control males. The Ala allele, the Ala/Gly genotype, and the Ala/Ala plus Ala/Gly genotype frequencies were significantly higher in the S-MP patients than in the control males, whereas the allele and the genotype frequencies were comparable between the M-MP patients and the control males. The results suggest that the SF-1 Gly146Ala polymorphism may constitute a susceptibility factor for the development of S-MP, and that M-MP can be regarded as a normal variation in terms of the polymorphism effect.

Original languageEnglish
Pages (from-to)445-448
Number of pages4
JournalEndocrine journal
Issue number4
Publication statusPublished - 2005 Oct 7



  • Association
  • Micropenis
  • Polymorphism
  • Steroidogenic factor 1
  • Susceptibility

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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