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StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia
Abeer Alabduljabbar1, Dania Farooq2, Sara Abid2
1Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, kfshrc.edu.sa.
Case Reports in Endocrinology
|January 8, 2026
Summary
Steroidogenic acute regulatory (StAR) protein deficiency causes congenital adrenal hyperplasia and sexual development issues. This study details clinical and genetic findings in seven Saudi patients, highlighting diverse presentations and the need for early diagnosis.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Steroidogenic acute regulatory (StAR) protein deficiency is a rare autosomal recessive disorder impacting steroid hormone synthesis.
- It leads to congenital adrenal hyperplasia (CAH) and disorders of sexual development (DSD).
- Limited data on StAR deficiency exists for the Saudi Arabian population.
Purpose of the Study:
- To describe the clinical and genetic characteristics of seven Saudi patients diagnosed with StAR deficiency.
- To enhance understanding of StAR deficiency in a consanguineous population.
Main Methods:
- A case series approach was used.
- Data was collected from patients treated at King Faisal Specialist Hospital and Research Centre, Riyadh.
- Clinical and genetic data, including STAR variants, were analyzed.
Main Results:
- Seven Saudi patients, all from consanguineous families, were studied.
- All presented with CAH and a female phenotype despite chromosomal sex (five 46,XY; two 46,XX).
- Common findings included electrolyte disturbances, salt-wasting, and in two cases, neonatal cholestatic jaundice; homozygous pathogenic STAR variants were confirmed.
Conclusions:
- StAR deficiency presents a diverse clinical spectrum, including adrenal crisis, DSD, and cholestasis.
- Early genetic diagnosis and counseling are crucial, especially in consanguineous communities.
- Further research is needed to explore the clinical and molecular complexities of StAR deficiency.
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