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

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.

Italian journal of pediatrics - 20 Jun 2017

Bizzarri Carla, Pisaneschi Elisa, Mucciolo Mafalda, Pedicelli Stefania, Galeazzi Daniela, Novelli Antonio, Cappa Marco

Abstract excerpt

BACKGROUND: Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survival. Classic...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hyperplasia, Congenital
Share to Disorder of Sex Development, 46,XY

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation

Share to Phosphoproteins

Share to Steroidogenic Acute Regulatory Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 28637490
DOI: 10.1186/s13052-017-0371-y
PMCID: PMC5480121

Variants

rs104894090

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.PMID 28637490Read ↗

Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.Semantic proximity Read ↗

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.Semantic proximity Read ↗

[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].Semantic proximity Read ↗

Lipoid congenital adrenal hyperplasia due to steroid acute regulatory protein (STAR) variants in Three Chinese patients.Semantic proximity Read ↗

Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal InsufficiencySemantic proximity Read ↗

Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

A novel variant of the STAR gene: nonclassical presentation from Turkey.Semantic proximity Read ↗

Congenital lipoid adrenal hyperplasiaSemantic proximity Read ↗

Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.Semantic proximity Read ↗

Phenotypic variations in lipoid congenital adrenal hyperplasia.Semantic proximity Read ↗

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.Semantic proximity Read ↗

A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal HyperplasiaSemantic proximity Read ↗

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