Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia
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View abstract on PubMed
Summary
This summary is machine-generated.Congenital adrenal hyperplasia (CAH) in Saudi Arabia shows high rates of short stature, obesity, and menstrual issues in females, and TARTs in males. Individualized glucocorticoid therapy is crucial for managing these conditions.
Area Of Science
- Endocrinology
- Genetics
- Pediatric Endocrinology
Background
- Limited data exists on congenital adrenal hyperplasia (CAH) in the Saudi population.
- 21-hydroxylase deficiency is the most common form of CAH.
Purpose Of The Study
- To assess the clinical characteristics of adolescents and adults with 21-hydroxylase CAH in Saudi Arabia.
- To evaluate the long-term outcomes of chronic glucocorticoid replacement therapy in this population.
Main Methods
- Retrospective study of 108 patients (aged ≥ 14 years) with 21-hydroxylase CAH.
- Data collected from endocrine clinic at King Faisal Specialist Hospital and Research Centre, Riyadh (2019-2021).
- Included assessment of clinical features, treatment, and complications; genetic testing for CYP21A2 mutations.
Main Results
- Predominantly female patients (66.67%) with a median age of 21 years.
- Classic salt-wasting form (93.51%) was most common.
- High prevalence of short stature (30%), obesity (35.19%), oligomenorrhea in females (58.33%), and TARTs in males (44.44%).
- Metabolic issues included hypercholesterolemia (95.65%) and prediabetes (17.33%).
- CYP21A2 mutations confirmed in all tested patients.
Conclusions
- Short stature, obesity, and menstrual irregularities are prevalent in females with CAH.
- Testicular adrenal rest tumors (TARTs) are common in males.
- While metabolic and bone health are generally favorable, hormonal control variability necessitates individualized glucocorticoid therapy and continuous monitoring to optimize patient quality of life.
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