Hypogonadotropic hypogonadism

Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism

S. C. Hu, Ye, J., Fathi, A. K., Fu, X., Huang, S., Ning, Q., and Luo, X. P., Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism, vol. 11, pp. 4575-4584, 2012.

We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in 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.

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