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

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

6 Jul 2011

Abstract excerpt

Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical...

Read the complete abstract on PubMed

Topics

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

Share to Adipose Tissue and Metabolism
Share to Biochemical Analysis and Sensing Techniques
Share to Regulation of Appetite and Obesity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21860632
DOI: 10.1186/1687-9856-2011-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutationPMID 21860632Read ↗

Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene.Semantic proximity Read ↗

A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy.Semantic proximity Read ↗

A novel mutation in the proopiomelanocortin (POMC) gene of a Hispanic child: metformin treatment shows a beneficial impact on the body mass index.Semantic proximity Read ↗

Early-onset severe obesity with ACTH deficiency and red hair in a boy: the POMC deficiency.Semantic proximity Read ↗

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.Semantic proximity Read ↗

Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling.Semantic proximity Read ↗

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.Semantic proximity Read ↗

Late Diagnosis of POMC Deficiency and In Vitro Evidence of Residual Translation From Allele With c.-11C>A Mutation.Semantic proximity Read ↗

Implications of proopiomelanocortin (POMC) mutations in humans: the POMC deficiency syndrome.Semantic proximity Read ↗

The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus.Semantic proximity Read ↗

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanismSemantic proximity Read ↗

A Rare Cause of Adrenal Insufficiency – Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the LiteratureSemantic proximity Read ↗

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