Abstract
21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder with an incidence of 1:10,000-1:20,000 and is the result of various mutations in the CYP21A2 gene. 21OHD has been described in many different populations, but it has not been studied in Roma individuals so far. The aim of the study was to analyse the genotype in Roma patients with 21OHD and the prevalence of the disease in the Roma population of North Macedonia. Molecular analysis of the nine most frequent CYP21A2 mutations in all known Roma patients with CAH in North Macedonia, relatives and healthy individuals of Roma ancestry, using the PCR/ACRS method. Ten Roma patients with 21OHD were identified, of which nine had the salt-wasting and one had the simple virilizing form. Calculated incidence of 21OHD in the North Macedonian Roma population was 1:3375. Interestingly, 9/10 patients (90%) were homozygous for the In2G splicing mutation (293-13A/C>G). Standard therapy with hydrocortisone and fludrocortisone had been introduced according to the guidelines. In 16 healthy relatives investigated for CYP21A2 mutations, heterozygosity for the In2G mutation was detected in 13/32 (40.6%) alleles. In 100 healthy Roma individuals, none related to the analysed families, no CYP21A2 mutations were detected. The Roma population in North Macedonia had a very high incidence of classic 21OHD. Almost all patients had the severe salt-wasting form and the In2G/In2G genotype.
Full Text
Topics from this Paper
Roma Patients
CYP21A2 Mutations
Roma Population
North Macedonia
Roma Individuals
+ Show 5 more
Create a personalized feed of these topics
Get StartedSimilar Papers
Journal of obstetrics and women's diseases
May 15, 2012
Chinese Journal of Applied Clinical Pediatrics
Oct 20, 2017
Gastroenterologie a hepatologie
Aug 31, 2022
Hormones (Athens, Greece)
Apr 11, 2016
Endocrine
Mar 8, 2021
Endocrine Journal
Jan 1, 2015
International Journal of Immunogenetics
Sep 29, 2011
Experimental and Clinical Endocrinology & Diabetes
Oct 23, 2009
International Journal of Andrology
Jun 15, 2009
Journal of endocrinological investigation
Jun 1, 2013
International Journal of Pediatric Endocrinology
Oct 1, 2013
Endocrine Pathology
Aug 29, 2009
Clinical Endocrinology
Oct 1, 2000
Clinical Endocrinology
Clinical Endocrinology
Jul 25, 2023
Clinical Endocrinology
Jun 9, 2023
Clinical Endocrinology
Apr 16, 2023
Clinical Endocrinology
Mar 24, 2023
Clinical Endocrinology
Mar 24, 2023