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 Genetic Testing for Kallmann Syndrome

1 May 2013

Abstract excerpt

During the past 20 years, remarkable advances have been made regarding the molecular basis of many disorders affecting reproduction. This is particularly true for patients who present with delayed puberty due to GnRH deficiency. These affected males and females manifest low serum levels of sex steroids, low or normal gonadotropins, and no other pituitary pathology. The pathophysiology of GnRH deficiency is...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Hypothalamic control of reproductive hormones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23650337
DOI: 10.1210/jc.2013-1624

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical Genetic Testing for Kallmann SyndromePMID 23650337Read ↗

Recent advances in understanding and managing Kallmann syndromeSemantic proximity Read ↗

Kallmann syndrome: Diagnostics and management.Semantic proximity Read ↗

The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.Semantic proximity Read ↗

[Molecular genetics of Kallmann syndrome: an update].Semantic proximity Read ↗

Molecular Pathogenesis of Kallmann’s SyndromeSemantic proximity Read ↗

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.Semantic proximity Read ↗

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

Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and FutureSemantic proximity Read ↗

A Review of Kallmann Syndrome: Genetics, Pathophysiology, and Clinical ManagementSemantic proximity Read ↗

Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene.Semantic proximity Read ↗

The Importance of Autosomal Genes in Kallmann Syndrome: Genotype-Phenotype Correlations and Neuroendocrine CharacteristicsSemantic proximity Read ↗

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.Semantic proximity Read ↗

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