Clinical and endocrinological characterization of two subjects with reifenstein syndrome associated with qualitative abnormalities of the androgen receptor

H. U. Schweikert, L. Weissbach, C. Stangenberg, G. Leyendecker, H. K. Kley, Jim Griffin III, J. D. Wilson

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Abstract

The androgen receptor in fibroblasts cultured from a biopsy of scrotal skin from, 1 subject with Reifenstein syndrome has been found to be normal in amount and to bind dihydrotestosterone with normal affinity but to be qualitatively abnormal as evident by thermolability and instability upon ultracentrifugation. The family study of this subject andendocrine studies document androgen resistance in the index patient and his affected uncle. These findings provide evidence for X-linkage of this disorder, and suggest that the mutations that give rise to this phenotype are probably allelic to the mutations of the androgen receptor that cause testicular feminization.

Original languageEnglish (US)
Pages (from-to)72-79
Number of pages8
JournalHormone Research in Paediatrics
Volume25
Issue number2
DOIs
StatePublished - 1987

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Keywords

  • Androgen receptor
  • Androgens
  • Estrogens
  • Gonadotropins
  • Reifenstein syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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