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Pure XX gonadal dysgenesis in identical twins
Author(s) -
Youlton Ronald,
Michelsen Harold,
Be Cecilia,
CruzCoke Ricardo
Publication year - 1982
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.1399-0004.1982.tb00760.x
Subject(s) - gonadal dysgenesis , primary amenorrhea , endocrinology , medicine , biology , karyotype , dysgenesis , genetics , chromosome , gene
Pure gonadal dysgenesis has been described in several sibships. We report a pair of monozygous twins and their younger sister with secondary amenorrhea. They had no associated congenital anomalies. Plasma FSH levels were elevated and the ovarian biopsies showed absence of follicular structures. Their karyotypes were 46XX, further supporting the concept that this form of familial gonadal dysgenesis is an autosomal recessive defect.