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

Clinical manifestations of genetic defects affecting gonadotrophins and their receptors.

Clinical endocrinology - 1 Dec 1996

Conway G S

Abstract excerpt

Raised activity of the LH axis caused by activating mutations of LH receptor gene presents with precocious puberty in boys, analogous to the presentation of LH secreting pituitary adenomas (Faggiano et al., 1983; Ambrosi et al., 1990). LH "hyperactivity' in females appears to have no effect. Hyperactivity of the FSH axis caused by activating mutations of the FSH receptor gene might parallel the presentation of...

Read the complete abstract on PubMed

Topics

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

Share to Follicle Stimulating Hormone
Share to Infertility, Female
Share to Luteinizing Hormone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Puberty, Precocious

Source

Identifiers

PMID: 9039330
DOI: 10.1046/j.1365-2265.1996.8680879.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical manifestations of genetic defects affecting gonadotrophins and their receptors.PMID 9039330Read ↗

Molecular pathophysiology and clinical manifestations of gonadotropin receptor defects.Semantic proximity Read ↗

Inherited disorders of GnRH and gonadotropin receptors.Semantic proximity Read ↗

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.Semantic proximity Read ↗

Molecular abnormalities of FSH and LH action.Semantic proximity Read ↗

Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.Semantic proximity Read ↗

Mutations along the hypothalamic-pituitary-gonadal axis affecting male reproduction.Semantic proximity Read ↗

Molecular characterization and phenotypic expression of mutations in genes for gonadotropins and their receptors in humans.Semantic proximity Read ↗

[Pathologic manifestations of hormonal receptor mutations].Semantic proximity Read ↗

Mutations affecting gonadotropin secretion and action.Semantic proximity Read ↗

[Molecular defects in hormone receptors and G proteins in human disorders].Semantic proximity Read ↗

Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.Semantic proximity Read ↗

Prevalence, Phenotypic Spectrum, and Modes of Inheritance of Gonadotropin-Releasing Hormone Receptor Mutations in Idiopathic Hypogonadotropic HypogonadismSemantic proximity Read ↗

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