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Incomplete androgen insensitivity syndrome: partially masculinized genitalia in two patients with absence of androgen receptor in cultured fibroblasts.
- Source :
-
Clinical endocrinology [Clin Endocrinol (Oxf)] 1983 Nov; Vol. 19 (5), pp. 565-74. - Publication Year :
- 1983
-
Abstract
- In male pseudo-hermaphroditism due to end organ unresponsiveness, partial androgen insensitivity can usually be related to low but detectable dihydrotestosterone (DHT) binding activity in cultured sexual skin fibroblasts. We have studied two patients with partial virilization and total absence of androgen receptors in cultured fibroblasts. A lack of DHT binding could be related to a selection of a fibroblast strain with no androgen receptor activity, to insufficient sensitivity of the method in detecting very low receptor concentrations or to an instability of the receptor or the androgen-receptor complex. However, these observations raise the question of masculinization of external genitalia with undetectable androgen receptor.
- Subjects :
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase metabolism
Adolescent
Cells, Cultured
Dihydrotestosterone metabolism
Female
Fibroblasts metabolism
Humans
Male
Syndrome
Androgen-Insensitivity Syndrome metabolism
Disorders of Sex Development metabolism
Receptors, Androgen metabolism
Receptors, Steroid metabolism
Skin metabolism
Virilism metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 0300-0664
- Volume :
- 19
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Clinical endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 6640957
- Full Text :
- https://doi.org/10.1111/j.1365-2265.1983.tb00032.x