Incomplete Androgen Insensitivity Associated with a Thermolabile Androgen Receptor

Tomonobu Hasegawa, Yukihiro Hasegawa, Taiji Aso, Shinobu Koto, Yutaka Tsuchiya

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3 Citations (Scopus)

Abstract

One infant and a cousin with incomplete androgen insensitivity syndrome were reported. The familial pedigree showed that the disorder was inherited in three generations in X-linked recessive fashion. An androgen binding study of cultured genital skin fibroblast from patients showed normal maximum binding capacity and a normal apparent dissociation constant. Heat stability assay showed binding decreased to less than 30% at 41 °C compared with the amount at 30°C, indicating that the androgen receptor was thermolabile.

Original languageEnglish
Pages (from-to)31-35
Number of pages5
JournalEndocrine journal
Volume41
Issue number1
DOIs
Publication statusPublished - 1994 Jan 1

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Keywords

  • Incomplete androgen insensitivity syndrome
  • Thermolabile androgen receptor

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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