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Article

Phenotypic features of 46, XX females with StAR protein mutations.

Pediatric endocrinology reviews : PER - 1 Dec 2007

Bhangoo Amrit, Buyuk Erkan, Oktay Kutluk, Ten Svetlana

Abstract excerpt

OBJECTIVE: To understand the basis of the phenotypic variations of 46, XX girls with mutations in the gene for Steroidogenic Acute Regulatory (StAR) Protein. The patients with mutation in both the alleles of the StAR gene result in deficiency of all the steroidal hormones and severe adrenal insufficiency. The majority of the 46, XX females spontaneously undergo puberty but the underlying defect ultimately leads...

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PMID: 18084157

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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