StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia

This study highlights the diverse clinical spectrum of StAR deficiency, ranging from early adrenal crisis to DSD and atypical presentations such as cholestasis. The findings underscore the importance of early genetic diagnosis and counseling, particularly in consanguineous populations, and point to the need for continued research into the clinical and molecular complexity of StAR deficiency.

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Publication Details

Journal
Case Reports in Endocrinology
Published
2026-01-01
DOI
https://doi.org/10.1155/crie/8489134
Primary Topic
Sexual Differentiation and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia

Sara Abid, Raghad Alhuthil, Abeer Alabduljabbar, Dania Farooq et al.
Case Reports in Endocrinology
Sexual Differentiation and Disorders
article

StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia

Sara Abid, Raghad Alhuthil, Abeer Alabduljabbar, Dania Farooq, Afaf Alsagheir, Sara Aljazaeri
article en

Abstract

This study highlights the diverse clinical spectrum of StAR deficiency, ranging from early adrenal crisis to DSD and atypical presentations such as cholestasis. The findings underscore the importance of early genetic diagnosis and counseling, particularly in consanguineous populations, and point to the need for continued research into the clinical and molecular complexity of StAR deficiency.

Case Reports in EndocrinologyVol. 2026(1)
Alfaisal University (SA), King Faisal Specialist Hospital & Research Centre (SA)
Gender equality
Openalex Percentile: Top 96%
Sexual Differentiation and Disorders
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