[HTML][HTML] European consensus statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
U Boehm, PM Bouloux, MT Dattani… - Nature Reviews …, 2015 - nature.com
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …
deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which …
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form
(Kallmann syndrome [KS]) are genetically heterogeneous. Among the> 15 genes implicated …
(Kallmann syndrome [KS]) are genetically heterogeneous. Among the> 15 genes implicated …
Genetics of combined pituitary hormone deficiency: roadmap into the genome era
Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism
MI Stamou, NA Georgopoulos - Metabolism, 2018 - Elsevier
Abstract Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a
genetically and clinically heterogeneous disorder. Mutations in many different genes are …
genetically and clinically heterogeneous disorder. Mutations in many different genes are …
[PDF][PDF] Update on the genetics of idiopathic hypogonadotropic hypogonadism
AK Topaloğlu - Journal of clinical research in pediatric …, 2017 - jag.journalagent.com
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major
categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating …
categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating …
GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of …
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare,
related diseases that prevent normal pubertal development and cause infertility in affected …
related diseases that prevent normal pubertal development and cause infertility in affected …
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism
LGL Amato, LR Montenegro, AM Lerario… - European journal of …, 2019 - academic.oup.com
Context Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by
GnRH deficiency. Several genes have been associated with the pathogenesis of CHH, but …
GnRH deficiency. Several genes have been associated with the pathogenesis of CHH, but …
Discovering genes essential to the hypothalamic regulation of human reproduction using a human disease model: adjusting to life in the “-omics” era
MI Stamou, KH Cox, WF Crowley Jr - Endocrine reviews, 2015 - academic.oup.com
The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite
coordination of an assortment of cellular networks, all converging on the GnRH neurons …
coordination of an assortment of cellular networks, all converging on the GnRH neurons …
KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated
gonadotropin‐releasing hormone (Gn RH) deficiency caused by mutations in> 30 genes …
gonadotropin‐releasing hormone (Gn RH) deficiency caused by mutations in> 30 genes …