Gonadotropinresistenz beim Rothmund-Thomson-Syndrom

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Abstract
A case of Rothmund-Thomson syndrome of a 24-year old women with primary amenorrhoea is presented. This autosomal recessive disorder is characterised by atrophy, hyperpigmentation and teleangiectasiae of the skin, furthermore by juvenile cataracts and congenital bone defects as saddle nose. Endocrinologic and morphologic parameters suggest a resistant ovary syndrome as cause of this hypergonadotropic hypogonadism.

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