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

Can obesity exacerbate hyperinsulinaemia in the presence of the mutation of an insulin receptor gene?

Clinical obesity - 1 Dec 2023

Calcaterra Valeria, Zuccotti Gianvincenzo, Mari Alessandra, Iafusco Fernanda, Maione Giovanna, Iafusco Dario, Tinto Nadia

Abstract excerpt

Insulin receptor gene (INSR) mutations are a relatively rare and diverse cause of insulin resistance (IR), typically associated with a lean phenotype. However, we present a unique case of severe obesity and Type A severe IR syndrome in a patient with a heterozygous mutation of the INSR gene. Next Generation Sequencing (NGS) analysis was conducted to identify the genetic variant. A 16-year-old girl with severe...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Diabetes Mellitus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperinsulinism

Share to Insulin Resistance

Share to Mutation

Share to Obesity

Share to Obesity, Morbid

Share to Receptor, Insulin

Source

Identifiers

PMID: 37717597
DOI: 10.1111/cob.12619

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

Can obesity exacerbate hyperinsulinaemia in the presence of the mutation of an insulin receptor gene?PMID 37717597Read ↗

A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a De Novo INSR c.3328G>C mutation.Semantic proximity Read ↗

A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.Semantic proximity Read ↗

Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR GeneSemantic proximity Read ↗

Identification of a Novel Mutation in Patients with Type A Insulin Resistance Syndrome.Semantic proximity Read ↗

Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β‐subunit of the insulin receptor (INSR) geneSemantic proximity Read ↗

A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism.Semantic proximity Read ↗

Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p.Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother.Semantic proximity Read ↗

Genetic Insights into Severe Obesity: A Case Study of MC4R Variant Identification and Clinical ImplicationsSemantic proximity Read ↗

INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report.Semantic proximity Read ↗

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR geneSemantic proximity Read ↗

GENETICS IN ENDOCRINOLOGY: Genetic forms of severe insulin resistance: what endocrinologists should knowSemantic proximity Read ↗

Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance.Semantic proximity Read ↗

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