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An XX male: Cytogenetic and endocrine studies
Author(s) -
Rios Maria E.,
Kaufman Robert L.,
Sekhon Gurbax S.,
Bucy James G.,
Bauman Joan E.,
Jacobs Lawrence S.
Publication year - 1975
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.1399-0004.1975.tb00312.x
Subject(s) - buccal swab , karyotype , testosterone (patch) , endocrinology , biopsy , biology , medicine , endocrine system , bone marrow , y chromosome , andrology , hormone , chromosome , microbiology and biotechnology , genetics , gene
A 3 year old black male with ambiguous genitalia had a 46, XY karyotype in a bone marrow culture and an intermediate buccal smear result, suggestive of a mosaic of chromatin positive and chromatin negative cells. Upon re‐evaluation at age 15 years, he had a 30% positive buccal smear and a 46, XX karyotype in cultures of peripheral blood lymphocytes, skin fibroblasts, bone marrow, and testis. No Y‐body fluorescence was detectable in interphase cells from the testicular biopsy or the various cultures. The testicular biopsy appeared similar to that of XXY males, and primary hypogonadism was documented by elevated LH (107 mIU/ml) and FSH (57 mIU/ml) levels in conjunction with low testosterone (142 ng/100 ml). Administration of hCG produced qualitatively normal acute responses of testosterone and estrogens. The cytogenetic data provide support for the theory that at least some XX males once had a Y‐containing cell line which was subsequently lost.