Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Novel KISS1 Gene Mutation Leading to Male Hypogonadotropic Hypogonadism.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Feb 2026

Wittner Leonie, Mahindrakar Santosh, Yasin Ali, Scheel Sandra Nicole, Hoeppner Wolfgang, Feldkamp Joachim

Abstract excerpt

The human KISS1 gene encodes the hypothalamic Kisspeptin, which is released in a pulsatile manner and binds the KISS1 receptor, that is located on gonadotropin releasing hormone neurons. This interaction ensures pulsatile gonadotropin releasing hormone secretion leading to induction of the hypothalamic-pituitary-gonadal axis and by this controls puberty onset. Disruption of this process is associated with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Helicases

Share to CHD7 gene

Share to Hypogonadism

Share to Kisspeptins

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 41786302
DOI: 10.1055/a-2787-6622
PMCID: PMC12962792

Genes

KISS1
CHD7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel KISS1 Gene Mutation Leading to Male Hypogonadotropic Hypogonadism.PMID 41786302Read ↗

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.Semantic proximity Read ↗

Homozygous mutation of KISS1 receptor (KISS1R) gene identified in a Chinese patient with congenital hypogonadotropic hypogonadism (CHH): case report and literature review.Semantic proximity Read ↗

Molecular biology of the kisspeptin receptor: signaling, function, and mutations.Semantic proximity Read ↗

New genetic factors implicated in human GnRH-dependent precocious puberty: the role of kisspeptin system.Semantic proximity Read ↗

Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.Semantic proximity Read ↗

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.Semantic proximity Read ↗

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism.Semantic proximity Read ↗

Inactivating KISS1 mutation and hypogonadotropic hypogonadism.Semantic proximity Read ↗

Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism.Semantic proximity Read ↗

Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.Semantic proximity Read ↗

Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion.Semantic proximity Read ↗

Association of Kisspeptin and KISS1 Gene Polymorphism (rs35431622) with Circulating Sex Hormones and Male Infertility.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.