[Gonadotropin resistance in Rothmund-Thomson syndrome].
A case of Rothmund-Thomson syndrome of a 24-year old woman 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.
D000328:Adult; D000568:Amenorrhea / Q000188:drug therapy*; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy* / Q000235:genetics; D007986:Luteinizing Hormone / Q000097:blood; D008596:Menotropins / Q000627:therapeutic use*; D013577:Syndrome
D004958:Estradiol; D008596:Menotropins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
Gonadotropinresistenz beim Rothmund-Thomson-Syndrom.