Results 31 to 40 of about 278,652 (177)

Fertility outcomes in male adults with congenital hypogonadotropic hypogonadism treated during puberty with human chorionic gonadotropin and recombinant follicle stimulating hormone

Journal of Paediatrics and Child Health
Hormone replacement therapy with testosterone for pubertal induction in boys with congenital hypogonadotropic hypogonadism (CHH) achieves virilization but not spermatogenesis.
Francisca Grob, Rachna Keshwani, Eleanor Angley, M. Zacharin   +3 more
semanticscholar   +3 more sources

Sibling cases of congenital hypogonadotropic hypogonadism harboring compound heterozygous <i>KISS1R</i> variants. [PDF]

Clin Pediatr Endocrinol
Miyahara Y, Yamamoto K, Hata A, Maeyama T, Wada T, Yamazaki N, Kinoshita S, Etani Y, Kawai M.   +8 more
europepmc   +2 more sources

Reversal of congenital hypogonadotropic hypogonadism in two brothers carrying a homozygous KISS1 frameshift mutation. [PDF]

Lancet Diabetes Endocrinol
Coutant R, Zaegel N, Illouz F, Levaillant L, Magnin F, Perrot J, Ait Tayeb AEK, Briet C, Kaiser UB, Bouligand J, Young J, Maione L.   +11 more
europepmc   +2 more sources

Response to "Gonadotropin Treatment of Cryptorchidism in Congenital Hypogonadotropic Hypogonadism-Age Is No Limit?" [PDF]

Clin Endocrinol (Oxf)
Cho YH, Deshpande A, Langusch C, Ambler G.   +3 more
europepmc   +2 more sources

Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients [PDF]

Endocrine Connections, 2019
In approximately half of congenital hypogonadotropic hypogonadism (cHH) patients, the genetic cause remains unidentified. Since the lack of certain mi RNAs in animal models has led to cHH, we sequenced human miRNAs predicted to regulate cHH-related genes
Anna-Pauliina Iivonen, Johanna Känsäkoski, Kirsi Vaaralahti, Taneli Raivio   +3 more
doaj   +2 more sources

Clinical Management of Congenital Hypogonadotropic Hypogonadism. [PDF]

Endocrine reviews, 2019
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal episodic
J. Young, Cheng Xu, Georgios E. Papadakis, James S. Acierno, L. Maione, J. Hietamäki, T. Raivio, N. Pitteloud   +7 more
semanticscholar   +2 more sources

Expanded Targeted-Exome Sequencing and Functional Validation Improve Molecular Diagnosis and Refine Genotype-Phenotype Correlations in Congenital Hypogonadotropic Hypogonadism.

Neuroendocrinology
Fausto JS, Ferreira LGA, Correa-Silva SR, Chiamolera MI, Napolitano E Ferreira E, Kunii I, Dias-da-Silva MR.   +6 more
europepmc   +2 more sources

Improvement in semen parameters by switching steroids in a male congenital adrenal hyperplasia patient with severe oligozoospermia

Urology Case Reports, 2023
Congenital adrenal hyperplasia (CAH) causes hypogonadotropic hypogonadism due to the excessive production of adrenal androgens, which results in hypospermatogenesis in some male patients.
Atsushi Onishi, Keisuke Okada, Katsuya Sato, Yasuhiro Kaku, Koji Chiba, Masato Fujisawa   +5 more
doaj   +1 more source

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome

BMC Medical Genomics, 2023
Background Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia.
Nazlı Durmaz Çelik, Ebru Erzurumluoğlu, Serkan Özben, Uğur Toprak, Göknur Yorulmaz, Sevilhan Artan, Serhat Özkan   +6 more
doaj   +1 more source

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

Archives of Medical Science, 2020
Introduction Congenital hypogonadotropic hypogonadism results from a dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred to as
Agnieszka Gach, Iwona Pinkier, Urszula Wysocka, Kinga Sałacińska, Dominik Salachna, Maria Szarras-Czapnik, Aleksandra Pietrzyk, Agata Sakowicz, Anna Nykel, Lena Rutkowska, Magda Rybak-Krzyszkowska, Magda Socha, Aleksander Jamsheer, Lucjusz Jakubowski   +13 more
doaj   +1 more source