Endocrine Abstracts

JOINT2218

Background: Steroidogenic Acute Regulatory (StAR) protein deficiency is a rare autosomal recessive disorder disrupting steroid hormone production, leading to congenital adrenal hyperplasia (CAH) and variations in sexual development. Clinical presentations of StAR deficiency include electrolyte imbalances, ambiguous genitalia, adrenal and gonadal dysfunctions. Understanding the clinical and genetic spectrum of StAR deficiency is vital for accurate diagnosis, effective management, and genetic counselling.

Objectives: This case series provides detailed insights into the clinical presentation and genetic characteristics of StAR deficiency among seven patients diagnosed at King Faisal Specialist Hospital and Research Center (KFSH&RC) in Riyadh, Saudi Arabia.

Case presentation: Total of seven patients were born to consanguineous parents, predominantly first cousins. Patients were having 46, XY karyotype. And all patients exhibited congenital adrenal hyperplasia (CAH), The clinical presentations varied, with some patients showing bilateral inguinal gonads that were morphologically testicular, while others had completely feminized external genitalia or ambiguous genitalia. Most of the patients experienced symptoms of CAH like electrolyte imbalances and chronic salt-wasting. These symptoms were effectively managed using hydrocortisone and fludrocortisone. A notable finding they were having 46, XY karyotype with the StAR gene mutation, and all patients were phenotypically females.

Conclusions: These findings emphasize the importance of genetic counselling in consanguineous populations and highlight the need for continued research to address the complexities of StAR deficiency.