Discover Community Create You

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

Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature

21 Dec 2018

Abstract excerpt

BACKGROUND: Normosmic congenital hypogonadotropic hypogonadism (ncHH) is caused by the deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH). Its typical clinical manifestation is delayed puberty and azoospermia. Homozygous and compound heterozygous mutations in the GNRHR gene (4q13.2) are the most frequent genetic causes of ncHH. OBJECTIVES: (i) Characterization at the molecular...

Read the complete abstract on PubMed

Topics

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

Share to Hormonal and reproductive studies
Share to Hypothalamic control of reproductive hormones
Share to Ovarian function and disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30575316
DOI: 10.1111/andr.12563

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literaturePMID 30575316Read ↗

Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.Semantic proximity Read ↗

A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene.Semantic proximity Read ↗

Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.Semantic proximity Read ↗

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.Semantic proximity Read ↗

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.Semantic proximity Read ↗

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

Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.Semantic proximity Read ↗

Update on the Genetics of Idiopathic Hypogonadotropic HypogonadismSemantic proximity Read ↗

Genetics of Isolated Hypogonadotropic Hypogonadism: Role of GnRH Receptor and Other GenesSemantic proximity Read ↗

[Normosmic idiopathic hypogonadotropic hypogonadism with GnRH receptor mutation(review)].Semantic proximity Read ↗

[GnRH deficiency: new insights from genetics].Semantic proximity Read ↗

Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.Semantic proximity Read ↗

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