Incomplete Androgen Insensitivity Associated with a Thermolabile Androgen Receptor

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

doi:10.1507/endocrj.41.31

Incomplete Androgen Insensitivity Associated with a Thermolabile Androgen Receptor

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

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	31-35
Number of pages	5
Journal	Endocrine journal
Volume	41
Issue number	1
DOIs	https://doi.org/10.1507/endocrj.41.31
Publication status	Published - 1994
Externally published	Yes

Keywords

Incomplete androgen insensitivity syndrome
Thermolabile androgen receptor

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1507/endocrj.41.31

Cite this

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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.",

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author = "Tomonobu Hasegawa and Yukihiro Hasegawa and Taiji Aso and Shinobu Koto and Yutaka Tsuchiya",

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AU - Aso, Taiji

AU - Koto, Shinobu

AU - Tsuchiya, Yutaka

PY - 1994

Y1 - 1994

N2 - 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.

AB - 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.

KW - Incomplete androgen insensitivity syndrome

KW - Thermolabile androgen receptor

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Incomplete Androgen Insensitivity Associated with a Thermolabile Androgen Receptor

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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