Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism
Hu SC, Ye J, Fathi AK, Fu X, Huang S, Ning Q, Luo XP. Genet Mol Res. 2012 Oct 9;11(AOP). [Epub ahead of print]


Department of Pediatrics, Tongji Medical College, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, Hubei Province, China.


We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism. These patients were recruited from the Pediatrics section of Tongji Hospital, Tongji Medical College, in Wuhan, China. None of the affected subjects had clinical signs of adrenal insufficiency. The NR5A1 and PIN1 mutations were found in 7 out of 50 cases. These 7 individuals presented with severely low serum concentrations of testosterone or of estradiol and gonadotropin. Adrenal insufficiency was not diagnosed in any of these patients. Consequently NR5A1 or PIN1 mutations should be considered in idiopathic hypogonadotropic hypogonadism patients with normal karyotypes and without adrenal insufficiency.