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 …

Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism–a clinical perspective

Y Al Sayed, SR Howard - European Journal of Human Genetics, 2023 - nature.com
Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results
in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries …

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 …

Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counseling

ED Louden, A Poch, HG Kim, A Ben-Mahmoud… - Molecular and cellular …, 2021 - Elsevier
Hypogonadotropic hypogonadism, which may be normosmic (nHH) or anosmic/hyposmic,
known as Kallmann syndrome (KS), is due to gonadotropin-releasing hormone deficiency …

[HTML][HTML] Genetics of hypogonadotropic hypogonadism

AC Millar, H Faghfoury, JM Bieniek - Translational Andrology and …, 2021 - ncbi.nlm.nih.gov
Male congenital hypogonadotropic hypogonadism (CHH) is a heterogenous group of
genetic disorders that cause impairment in the production or action of gonadotropin …

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 …

[HTML][HTML] Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism

B Bhagavath, RH Podolsky, M Ozata, E Bolu, DP Bick… - Fertility and sterility, 2006 - Elsevier
OBJECTIVE: To characterize the phenotype, modes of inheritance, karyotype, and molecular
basis of patients with idiopathic hypogonadotropic hypogonadism (IHH). DESIGN: Review of …

[HTML][HTML] Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism

Y Izumi, E Suzuki, S Kanzaki, S Yatsuga, S Kinjo… - Fertility and sterility, 2014 - Elsevier
Objective To clarify the molecular basis of hypogonadotropic hypogonadism (HH). Design
Genome-wide copy number analysis by array-based comparative genomic hybridization …

Advances in the Molecular Genetics of Hypogonadotropic Hypergonadism

JC Achermann, JL Jameson - Journal of Pediatric Endocrinology …, 2001 - degruyter.com
Mutations in several genes have been shown to cause hypogonadotropic hypogonadism
(HHG) in humans. This condition may result from abnormalities in hypothalamic …

[PDF][PDF] Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation …

L Maione, AA Dwyer, B Francou… - European Journal of …, 2018 - academia.edu
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare,
related diseases that prevent normal pubertal development and cause infertility in affected …