نتایج جستجو برای: idiopathic hypogonadotropic hypogonadism

تعداد نتایج: 66457  

Journal: :Asian journal of andrology 2009
Kai-Fa Tang Qi-Fei Wu Tie-Jun Zou Wei Xue Xin-Yang Wang Jun-Ping Xing

We conducted an analysis of the Kallmann syndrome 1 (KAL-1) genotype in 17 patients with Kallmann syndrome (KS), 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) and 20 age-matched normal men in Northwestern China. To do this, we used multiplex PCR analysis with exon-flanking primers and automated sequencing techniques with peripheral blood DNA samples. Intragenic delet...

Journal: :European journal of endocrinology 2002
Marion Depenbusch Sigrid von Eckardstein Manuela Simoni Eberhard Nieschlag

OBJECTIVE It is generally accepted that both gonadotropins LH and FSH are necessary for initiation and maintenance of spermatogenesis. We investigated the relative importance of FSH for the maintenance of spermatogenesis in hypogonadotropic men. SUBJECTS AND METHODS 13 patients with gonadotropin deficiency due to idiopathic hypogonadotropic hypogonadism (IHH), Kallmann syndrome or pituitary i...

Journal: :Genetics and molecular research : GMR 2014
X L Wang D D Wang J Q Gu N Zhang Z Y Shan

Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed hearing disorders, and skel...

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