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Updated: Oct 21, 2026

A Reverse Genetic Approach to Test Functional Redundancy During Embryogenesis
Published on: August 11, 2010
Gonadal function in two siblings with Fanconi's anemia
Abstract:
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.
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