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Specific 5α‐dihydrotestosterone binding in labial skin fibroblasts c1ultured from patients with male pseudohermaphroditism
Author(s) -
Kaufman Morris,
Straisfeld Cipia,
Pinsky Leonard
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb01614.x
Subject(s) - male pseudohermaphroditism , dihydrotestosterone , disorders of sex development , pseudohermaphroditism , testicular feminization , endocrinology , external genitalia , true hermaphroditism , biology , medicine , sexual differentiation , karyotype , anatomy , androgen , hormone , genetics , androgen receptor , cancer , prostate cancer , chromosome , gene
The cytoplasm of skin fibroblasts serially subcultured from the labium majus of normal human females binds 5α‐dihydrotestosterone (5α‐DHT) with high affinity and low capacity. Such binding was absent from the strains of two male pseudohermaphrodites with unambiguous female external genitalia: one of these was from a patient with the clinical features and a family history typical of complete testicular feminization; the other merited the same diagnosis on anatomic and endocrine grounds, but had an XYY karyotype in multiple tissues, including the testes. Normal cytoplasmic binding was found in strains from two prepubertal male pseudohermaphrodites with bilateral inguinal testes: one had unambiguous female external genitalia, the other had clitoromegaly; the former had normal specific nuclear binding of Sα‐DHT, and thereby the target cell capacity for pubertal masculinization. Measurement of specific 5α‐DHT binding by cultured labial skin fibroblasts should be an early step in the investigation of male pseudohermaphroditism with female external genitalia.