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Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review
Author(s) -
Sugarman I. D.,
Crolla J. A.,
Malone P. S.
Publication year - 1994
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.1399-0004.1994.tb04167.x
Subject(s) - gonad , gonadal dysgenesis , biology , in situ hybridization , centromere , x chromosome , karyotype , chromosome , endocrinology , medicine , development of the gonads , y chromosome , microbiology and biotechnology , pathology , genetics , gene expression , gene
A male patient with mixed gonadal dysgenesis, involving a streak gonad on the right and a histologically normal testis in the left, was found to have a 45, X/46, X, dic(Yp) chromosome constitution on peripheral blood cultures. Fibroblasts grown from both gonads showed the “normal” testicular tissue to have e 45, X/46, X, dic(Yp), whereas the cells from the streak gonad were all 45, X. The structure of the dic(Yp) chromosome was confirmed using non‐isotopic in situ hybridization with Y centromere and Yp specific probes. On hormonal stimulation, testosterone levels rose by 50%. The “normal” testis was left in situ , but close follow up will be required in view of the malignant potential.