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

Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.

International journal of molecular sciences - 18 Apr 2023

Cannarella Rossella, Gusmano Carmelo, Condorelli Rosita A, Bernini Andrea, Kaftalli Jurgen, Maltese Paolo Enrico, Paolacci Stefano, Dautaj Astrit, Marceddu Giuseppe, Bertelli Matteo, La Vignera Sandro, Calogero Aldo E

Abstract excerpt

Congenital hypogonadotropic hypogonadism (cHH)/Kallmann syndrome (KS) is a rare genetic disorder with variable penetrance and a complex inheritance pattern. Consequently, it does not always follow Mendelian laws. More recently, digenic and oligogenic transmission has been recognized in 1.5-15% of cases. We report the results of a clinical and genetic investigation of five unrelated patients with cHH/KS analyzed...

Read the complete abstract on PubMed

Topics

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

Share to Heterozygote
Share to Hypogonadism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kallmann Syndrome

Share to Mutation

Share to Penetrance

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 37108593
DOI: 10.3390/ijms24087428
PMCID: PMC10138801

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.PMID 37108593Read ↗

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

Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.Semantic proximity Read ↗

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.Semantic proximity Read ↗

Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease.Semantic proximity Read ↗

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.Semantic proximity Read ↗

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.Semantic proximity Read ↗

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.Semantic proximity Read ↗

[Clinical feature and genetic analysis of a patient with Idiopathic hypogonadotropic hypogonadism due to a novel variant of CHD7 gene].Semantic proximity Read ↗

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.Semantic proximity Read ↗

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

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic HypogonadismSemantic proximity Read ↗

Genetics of congenital hypogonadotropic hypogonadism in Denmark.Semantic proximity Read ↗

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