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46,XX Gonadal Dysgenesis Associated with Congenital Nerve Deafness
Author(s) -
Granat Menachem,
Reiter Alexander,
Dar Hana,
Sharf Mordechai
Publication year - 1979
Publication title -
international journal of gynecology and obstetrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.895
H-Index - 97
eISSN - 1879-3479
pISSN - 0020-7292
DOI - 10.1002/j.1879-3479.1979.tb00156.x
Subject(s) - medicine , gonadal dysgenesis , dysgenesis , phenotype , anatomy , genetics , gene , biology
A sporadic case of a woman presenting with the combination of pure 46,XX gonadal dysgenesis and congenital nerve deafness is reported. A similar association had been reported as a rare familial occurrence. The apparent heterogeneity of phenotypic characteristics among the previously reported individuals and the possible genetic implications are discussed.