Endocrine Journal, 1994, Vol.41(1), pp.31-35
1994
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Details
- Autor(en) / Beteiligte
- Titel
- Incomplete Androgen Insensitivity Associated with a Thermolabile Androgen Receptor
- Ist Teil von
- Endocrine Journal, 1994, Vol.41(1), pp.31-35
- Ort / Verlag
- Tokyo: The Japan Endocrine Society
- Erscheinungsjahr
- 1994
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0918-8959eISSN: 1348-4540DOI: 10.1507/endocrj.41.31Titel-ID: cdi_proquest_miscellaneous_76783153
- Format
- –
- Schlagworte
- Androgen-Insensitivity Syndrome - genetics, Androgen-Insensitivity Syndrome - metabolism, Androgens - metabolism, Biological and medical sciences, Cells, Cultured, Child, Preschool, Female, Fibroblasts - metabolism, Genes, Recessive, Gynecology. Andrology. Obstetrics, Hot Temperature, Humans, Incomplete androgen insensitivity syndrome, Infant, Male, Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance, Medical sciences, Pedigree, Receptors, Androgen - metabolism, Skin - cytology, Skin - metabolism, Syndrome, Thermolabile androgen receptor