Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

B Cangiano, DS Swee, R Quinton, M Bonomi - Human Genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

[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 …

Genetics of hypogonadotropic hypogonadism

AK Topaloglu, LD Kotan - Puberty from Bench to Clinic, 2016 - karger.com
Hypogonadotropic hypogonadism (HH) often manifests as pubertal delay. A considerable
proportion of cases of HH is due to genetic mutations. Recognizing those mutated genes …

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 …

Genetics of hypogonadotropic hypogonadism

SB Seminara, LMB Oliveira, M Beranova… - Journal of …, 2000 - Springer
Determining the physiologic influences that modulate GnRH secretion, the prime initiator of
reproductive function in the human, is fundamental not only to our understanding of the rare …

Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes

K Beate, N Joseph, R Nicolas… - International journal of …, 2012 - Wiley Online Library
Hypothalamic gonadotropin releasing hormone (GnRH) is a key player in normal puberty
and sexual development and function. Genetic causes of isolated hypogonadotropic …

Hypogonadotropic hypogonadism

LFG Silveira, GS MacColl… - … in reproductive medicine, 2002 - thieme-connect.com
Hypogonadotropic hypogonadism is characterized by failure of gonadal function secondary
to deficient gonadotropin secretion, resulting from either a pituitary or hypothalamic defect …

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella, SR Howard, JS Acierno… - European journal of …, 2018 - academic.oup.com
Objective Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of
growth and puberty (CDGP) represent rare and common forms of GnRH deficiency …

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships

F Brioude, J Bouligand, S Trabado… - European Journal of …, 2010 - academic.oup.com
Congenital hypogonadotropic hypogonadism (CHH) results from abnormal gonadotropin
secretion, and it is characterized by impaired pubertal development. CHH is caused by …

[HTML][HTML] Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice

H Butz, G Nyírő, PA Kurucz, I Likó, A Patócs - Human Genetics, 2021 - Springer
Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically
heterogeneous congenital disease. Symptoms cover a wide spectrum from mild forms to …