نتایج جستجو برای: hypogonadotropic hypogonadism

تعداد نتایج: 3749  

Journal: :International Medical Case Reports Journal 2014

Journal: :Journal of pediatric endocrinology & metabolism : JPEM 2012
S C Hu J Ye A K Fathi X Fu S Huang Q Ning X P Luo

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 W...

Journal: :Molecular and cellular endocrinology 2011
L Chevrier F Guimiot N de Roux

GnRH and its receptor GnRHR are key regulators of the hypothalamo-pituitary axis. They modulate the secretion of LH and FSH gonadotropins and therefore, the development and maturation of gonads in fetal life as well as after birth. Congenital functional defect of this axis results in isolated hypogonadotropic hypogonadism (IHH). Several natural mutations causing IHH without anosmia have now bee...

Journal: :The Journal of Clinical Endocrinology & Metabolism 2017

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