Article
An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.
The Journal of clinical endocrinology and metabolism - 1 Aug 2005
Reynaud Rachel, Barlier Anne, Vallette-Kasic Sophie, Saveanu Alexandru, Guillet Marie-Pierre, Simonin Gilbert, Enjalbert Alain, Valensi Paul, Brue Thierry
Abstract excerpt
CONTEXT: PROP1 gene mutations are usually associated with childhood onset GH and TSH deficiencies, whereas gonadotroph deficiency is diagnosed at pubertal age. OBJECTIVES: We report a novel PROP1 mutation revealed by familial normosmic hypogonadotropic hypogonadism. We performed in vitro transactivation and DNA binding experiments to study functional consequences of this mutation. SETTING: Three brothers were...
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