Gonadal function in two siblings with Fanconi's anemia.
2 siblings with Fanconi's anemia, 1 male and 1 female, aged 22 and 24 years, respectively, were evaluated at the Johns Hopkins Hospital because of short stature and hypogonadism. Plasma levels of somatomedin-C were normal in both patients, suggesting that the production of biologically active growth hormone was normal in these subjects. In addition, measurements of serum gonadotropins and plasma androgens in our patients, along with data accumulated from previous studies in the literature, show that abnormal sexual development in patients with Fanconi's anemia is due to hypergonadotropic hypogonadism.
D000328:Adult; D000728:Androgens / Q000097:blood; D000741:Anemia, Aplastic / Q000097:blood*; D005199:Fanconi Anemia / Q000097:blood*; D005260:Female; D006062:Gonadotropins / Q000097:blood; D006130:Growth Disorders / Q000097:blood / Q000209:etiology; D006728:Hormones / Q000097:blood*; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000209:etiology*; D007334:Insulin-Like Growth Factor I; D007621:Karyotyping; D008297:Male; D013002:Somatomedins / Q000097:blood
D000728:Androgens; D006062:Gonadotropins; D006728:Hormones; D013002:Somatomedins; D007334:Insulin-Like Growth Factor I