Publications by authors named "Mirta Stivel"
Article Synopsis
- 21-hydroxylase deficiency is a leading cause of Congenital Adrenal Hyperplasia and presents in classical (severe) and nonclassical (mild) forms, with different genetic variants affecting patients across populations.
- This study examined the CYP21A2 gene defects in a large group of 628 Argentine patients, detailing genetic variations and their frequency among classical and nonclassical forms, while also analyzing family members and partners.
- Key findings highlighted the frequent variants identified, the correlation between genotype and clinical manifestations, and the identification of rare and novel mutations, contributing to a better understanding of this condition in the studied population.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90-95% of CAH cases. In the present work, we analyzed the functional consequence of four novel previously reported point CYP21A2 mutations -p.R132C, p.
View Article and Find Full Text PDFAdrenal insufficiency is defined by impaired secretion of adrenocortical hormones. It is classified upon the etiology in primary and secondary. Rapid recognition and therapy of adrenocortical crisis are critical to survival.
View Article and Find Full Text PDFObjective: To characterize the molecular basis of the 21-hydroxylase deficiency in a group of Argentine patients presenting the classical and nonclassical forms of the disease.
Design: To analyse the frequency of point mutations in the CYP21 gene by DNA amplification and mutation detection.
Patients: Forty-one patients from 36 nonrelated families: 25 nonclassical (NC), 11 salt-wasting (SW) and five simple virilizing (SV).