Article
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.
Nature genetics - 1 Mar 2009
Topaloglu A Kemal, Reimann Frank, Guclu Metin, Yalin Ayse Serap, Kotan L Damla, Porter Keith M, Serin Ayse, Mungan Neslihan O, Cook Joshua R, Imamoglu Sazi, Akalin N Sema, Yuksel Bilgin, O'Rahilly Stephen, Semple Robert K
Abstract excerpt
The timely secretion of gonadal sex steroids is essential for the initiation of puberty, the postpubertal maintenance of secondary sexual characteristics and the normal perinatal development of male external genitalia. Normal gonadal steroid production requires the actions of the pituitary-derived gonadotropins, luteinizing hormone and follicle-stimulating hormone. We report four human pedigrees with severe...
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