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Article

Two siblings with lipoid congenital adrenal hyperplasia: first reported case in Serbia and literature review.

Frontiers in endocrinology - 1 Jan 2026

Jesic Maja D, Kovacevic Smiljka, Zdravkovic Vera, Pavlovic Sonja, Skakic Anita, Gasic Vladimir, Mijovic Marija, Jesic Milos M, Lukic Ljiljana

Abstract excerpt

Background: Lipoid congenital adrenal hyperplasia (LCAH) is an uncommon but life-threatening autosomal recessive disorder. It is caused by a mutation in the steroidogenic acute regulatory protein (StAR), encoded by the STAR gene. Methods: Clinical manifestations of two siblings with primary adrenal insufficiency (PAI) were described. A female infant was admitted to the hospital at six months of age for vomiting...

Read the complete abstract on PubMed

Topics

Humans
Female
Adrenal Hyperplasia, Congenital
Disorder of Sex Development, 46,XY
Siblings
Male

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Steroidogenic Acute Regulatory Protein

Phosphoproteins

Mutation

Infant

Serbia

Source

Open in PubMed Open full text

Identifiers

PMID: 42688021
DOI: 10.3389/fendo.2026.1912249
PMCID: PMC13533673

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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