Results 21 to 30 of about 278,652 (177)

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism. [PDF]

BMC Genomics
This study aims to elucidate the genetic causes of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder resulting in GnRH deficiency, in six families from Pakistan.
Zouaghi Y, Choudhary AM, Irshad S, Adamo M, Rehman KU, Fatima A, Shahid M, Najmi N, De Azevedo Correa F, Habibi I, Boizot A, Niederländer NJ, Ansar M, Santoni F, Acierno J, Pitteloud N.   +15 more
europepmc   +2 more sources

Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres. [PDF]

Lancet Diabetes Endocrinol
Summary Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder characterized by incomplete/absent puberty and infertility. Unlike most rare genetic disorders, 10–15% of male patients undergo spontaneous reversal. To date,
Dwyer AA, McDonald IR, Cangiano B, Giovanelli L, Maione L, Silveira LFG, Raivio T, Latronico AC, Young J, Quinton R, Bonomi M, Persani L, Seminara SB, Lee CS.   +13 more
europepmc   +2 more sources

FGFR1-related congenital hypogonadotropic hypogonadism: a case report and literature review

Gynecological Endocrinology
Objective Congenital hypogonadotropic hypogonadism (CHH) is a rare condition characterized by incomplete pubertal development, infertility, and gonadotropin-releasing hormone deficiency, associated with mutations in more than 50 genes.
Miao Sun, Yan Liu, Maolin Liu, Zhongyao Zeng, Chengjun Yu, Rong Han, Long Chen, Shengde Wu   +7 more
doaj   +2 more sources

Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study. [PDF]

Eur J Hum Genet
Congenital hypogonadotropic hypogonadism (CHH) is a rare and genetically heterogeneous disorder characterized by absent or incomplete puberty due to impaired gonadotropin-releasing hormone (GnRH) function.
Correa FA, Habibi I, Zhai J, Adamo M, Wang Y, Boizot A, Zouaghi Y, Rauch A, Pekic S, Quinton R, Bonomi M, Cangiano B, Dhillo WS, Fluck CE, Nemeth A, Bouloux PM, Ferrara JM, Pignatelli D, Halász Z, Perdices-Lopez C, Messina A, Niederländer NJ, Santoni F, Acierno JS, Pitteloud N.   +24 more
europepmc   +2 more sources

Efficacy of follitropin-alpha versus human menopausal gonadotropin for male patients with congenital hypogonadotropic hypogonadism

Urology Research and Practice, 2019
Objective: To compare human menopausal gonadotropin (hMG) and recombinant follicle-stimulating hormone (rFSH) with respect to successful spermatogenesis and pregnancy outcomes in patients with congenital hypogonadotropic hypogonadism (CHH).
Mazhar Ortaç, Muhammed Hıdır, Nusret Can Çilesiz, Ateş Kadıoğlu   +3 more
doaj   +2 more sources

Comparison of FSH Pre-treatment Versus Upfront hCG and FSH Regimens for Inducing Spermatogenesis in Congenital Hypogonadotropic Hypogonadism: A Pilot Study [PDF]

Indian Journal of Endocrinology and Metabolism
Introduction: Appropriate gonadotropin therapy regimen for the induction of spermatogenesis in congenital Hypogonadotropic Hypogonadism (HH) patients is a matter of debate.
Japleen Kaur, Nikhil Singhania, Umanath Adhikari, Richa Vatsa, Ujjwal Gorsi, Akash Bansal, Sanjay Bhadada, Nidhi Gupta, Anil Bhansali, Naresh Sachdeva, Aayushi Kaushal, Rama Walia   +11 more
doaj   +2 more sources

Evaluating Sperm Recovery Time and Efficacy of Monotherapy <i>vs.</i> Combination Therapies in Men with Congenital Hypogonadotropic Hypogonadism: A Systematic Review and Meta-Analysis. [PDF]

World J Mens Health
Purpose There is a lack of pooled data exploring the time and rates for human chorionic gonadotropin (hCG) monotherapy vs. combination therapies (hCG+human menopausal gonadotropin or recombinant human follicle-stimulating hormone) to restore ...
Pozzi E, Ila V, Petrella F, Corsini C, Ghomeshi A, Dureja R, Boaretto D, Somasundar T, Salonia A, Ramasamy R.   +9 more
europepmc   +2 more sources

Pulsatile gonadotropin releasing hormone therapy for spermatogenesis in congenital hypogonadotropic hypogonadism patients who had poor response to combined gonadotropin therapy. [PDF]

Arch Endocrinol Metab
Objective: Both pulsatile gonadotropin-releasing hormone (GnRH) and combined gonadotropin therapy are effective to induce spermatogenesis in men with congenital hypogonadotropic hypogonadism (CHH).
Huang Z, Wang X, Yu B, Ma W, Zhang P, Wu X, Nie M, Mao J.   +7 more
europepmc   +2 more sources

Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations. [PDF]

Asian J Androl
Fibroblast growth factor receptor 1 (FGFR1) mutations are associated with congenital hypogonadotropic hypogonadism (CHH) through inheritance or spontaneous occurrence.
Yang YF, Ma HL, Wang X, Nie M, Mao JF, Wu XY.   +5 more
europepmc   +2 more sources

Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation. [PDF]

BMJ Case Rep
Congenital hypogonadotropic hypogonadism (CHH) is a genetically and clinically diverse disorder encompassing Kallmann syndrome (KS) and normosmic CHH (nCHH).
Ichioka K, Yoshikawa T, Kimura H, Saito R.   +3 more
europepmc   +2 more sources