Evidence map›Paper›PMID 41640169›Full record

ArticleProblemy endokrinologii2026

[Non-classic lipoid adrenal hyperplasia: clinical cases report].

I G Sichinava, E S Demina, E M Sharibzhanova, L S Sozaeva, E E Petryaykina, A N Tiulpakov

Abstract readCase ReportsEnglish Abstract
In one paragraph

Article in Problemy endokrinologii, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

6 authors.

I G SichinavaPirogov Russian National Research Medical University.
E S DeminaPirogov Russian National Research Medical University; Russian Children's Clinical Hospital.
E M SharibzhanovaRussian Children's Clinical Hospital.
L S SozaevaEndocrinology Research Center.
E E PetryaykinaPirogov Russian National Research Medical University; Russian Children's Clinical Hospital.
A N TiulpakovRussian Children's Clinical Hospital; Research Center for Medical Genetics.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lipoid adrenal hyperplasia (LAH) is a rare severe form of congenital adrenal hyperplasia, which is caused by mutations in the STAR gene (8p11.2), encoding the transport protein StAR. The defect of the StAR protein leads to a total disruption of adrenal and gonadal steroidogenesis. The division into the classic form of the disease, in which all steroidogenesis is disrupted, and the non-classic, in which only adrenal steroidogenesis is usually disrupted, is a generally accepted classification of LAH. We report two cases of patients with clinical and laboratory data indicating a non-classic LAH. Both patients with 46,XY karyotype presented late (at 5 and 3 years) manifestation of clinical symptoms and had normal male external genitalia. Homozygous mutation p.R188C in one patient and compound heterozygous mutations p.R188C and p.R272H in the other were identified by molecular genetic assay. STAR genetic testing allowed to diagnose non-classic LAH in differential diagnosis of hypocorticism.

Indexed as

Adrenal Hyperplasia, CongenitalDisorder of Sex Development, 46,XYPhosphoproteinsChild, PreschoolDiagnosis, DifferentialHumansMaleMutationSteroidogenic Acute Regulatory ProteinPhosphoproteinsSteroidogenic Acute Regulatory Protein

Identifiers

PMID41640169
PMCPMC12954414

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