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

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

1 Jan 2019

Abstract excerpt

INTRODUCTION: Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenal insufficiency and T-box pituitary restricted transcription factor (TBX19) mutations are responsible for two-thirds of the neonatal onset form of the disease. IAD presents with hypoglycemia and prolonged jaundice in the neonatal period. TBX19 is important for both pro-opiomelanocortin (POMC) gene transcription and...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Growth Hormone and Insulin-like Growth Factors
Share to Pancreatic function and diabetes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32344415
DOI: 10.1159/000506740

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Rare Cause of Adrenal Insufficiency – Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the LiteraturePMID 32344415Read ↗

A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.Semantic proximity Read ↗

Functional study of three cases with novel TBX19 variants.Semantic proximity Read ↗

Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiencySemantic proximity Read ↗

Case Report: Neonatal Presentation of Congenital Adrenal Hyperplasia Accompanied by Isolated Cleft PalateSemantic proximity Read ↗

Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.Semantic proximity Read ↗

Adrenal insufficiency updates in children.Semantic proximity Read ↗

NR0B1 Gene Variants as Rare Forms of Primary Adrenal Insufficiency in Children: Case Report and Narrative Review.Semantic proximity Read ↗

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutationSemantic proximity Read ↗

TBX3- Related Disorder.Semantic proximity Read ↗

A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations.Semantic proximity Read ↗

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiencySemantic proximity Read ↗

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.Semantic proximity Read ↗

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