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The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis
- Source :
- Hormone and Metabolic Research
- Publication Year :
- 2019
- Publisher :
- Georg Thieme Verlag KG, 2019.
-
Abstract
- Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. The study refers to CAH patients of Greek-Cypriot ancestry between years 2007 and 2018. One hundred and twenty patients with various degrees of CAH were categorized and genotyped. The patients were categorized in 4 mutation groups based on their clinical and biochemical findings. The majority of patients (85.0%) belonged to the non-classic (NC)-CAH form and the disorder was more often diagnosed in females (71.7%). The most severe classic salt-wasting (SW) form was identified in 11 neonates (9.2%). Seven (5.8%) children were also identified with the simple virilizing (SV) form and a median presentation age of 5 years [interquartile range (IQR) 3.2–6.5]. In the 240 nonrelated alleles, the most frequent mutation was p.Val281Leu (60.0%) followed by c.655 A/C>G (IVS2–13A/C>G) (8.8%), p.Pro453Ser (5.8%), DelEx1–3 (4.6%), p.Val304Met (4.6%), and p.Gln318stop (4.2%). Other less frequent mutations including rare deletions were also identified. Following our recent report that the true carrier frequency of CYP21A2 in Greek-Cypriots is 1:10, this study reports that the CAH prevalence is predicted around 1.7 cases per 10 000 people. Therefore, the up-to-date 120 CAH patients identified by our group make only the 6.9% of the ones estimated (approximately 1750) to exist in the Greek Cypriot population. The compiled data from a coherent population such as the Greek-Cypriot could be valuable for the antenatal diagnosis, management and genetic counselling of the existing and prospect families with CAH.
- Subjects :
- Male
medicine.medical_specialty
Genotype
Endocrinology, Diabetes and Metabolism
Genetic counseling
Clinical Biochemistry
Population
030209 endocrinology & metabolism
030204 cardiovascular system & hematology
Biochemistry
03 medical and health sciences
0302 clinical medicine
Endocrinology
Interquartile range
Internal medicine
medicine
Retrospective analysis
Humans
Point Mutation
Congenital adrenal hyperplasia
Allele
Child
education
Alleles
Retrospective Studies
education.field_of_study
Adrenal Hyperplasia, Congenital
business.industry
Biochemistry (medical)
Infant, Newborn
Infant
Retrospective cohort study
General Medicine
medicine.disease
3. Good health
Child, Preschool
Cyprus
Mutation
Female
Steroid 21-Hydroxylase
business
Subjects
Details
- ISSN :
- 14394286 and 00185043
- Volume :
- 51
- Database :
- OpenAIRE
- Journal :
- Hormone and Metabolic Research
- Accession number :
- edsair.doi.dedup.....aa09bce5205e486dcfeed5b5c35f466b