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Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias
- Source :
- The Journal of Clinical Endocrinology & Metabolism. 80:2697-2699
- Publication Year :
- 1995
- Publisher :
- The Endocrine Society, 1995.
-
Abstract
- Androgen receptor defects can cause severe hypospadias. To examine the possibility that androgen receptor defects are a common cause of such deficiencies, we have determined the coding sequence of the androgen receptor gene in nine patients with severe hypospadias. The analysis of the androgen receptor coding sequence predicts a normal amino acid sequence for the androgen receptor of eight of the nine patients, indicating that the observed defects in virilization are infrequently caused by mutations of the open-reading frame of the androgen receptor. These findings demonstrate the importance of family history and endocrine studies in identifying patients likely to harbor coding sequence mutations in the androgen receptor gene, and they serve to focus attention on other genes that may influence androgen action in this group of patients.
- Subjects :
- Male
Cholestenone 5 alpha-Reductase
medicine.medical_specialty
medicine.drug_class
Endocrinology, Diabetes and Metabolism
Molecular Sequence Data
Clinical Biochemistry
Genitalia, Male
Biology
urologic and male genital diseases
medicine.disease_cause
Biochemistry
Endocrinology
Internal medicine
medicine
Humans
Coding region
Gene
Peptide sequence
Skin
Hypospadias
Mutation
Base Sequence
Virilization
Biochemistry (medical)
Dihydrotestosterone
DNA
Fibroblasts
medicine.disease
Androgen
Androgen receptor
Receptors, Androgen
medicine.symptom
Oxidoreductases
Subjects
Details
- ISSN :
- 19457197 and 0021972X
- Volume :
- 80
- Database :
- OpenAIRE
- Journal :
- The Journal of Clinical Endocrinology & Metabolism
- Accession number :
- edsair.doi.dedup.....9b0dd1e5bce629991b8f52afa48b2307
- Full Text :
- https://doi.org/10.1210/jcem.80.9.7673412