The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis

Author:

Neocleous Vassos12,Fanis Pavlos12,Toumba Meropi13,Stylianou Charilaos4,Picolos Michalis5,Andreou Elena6,Kyriakou Andreas7,Iasonides Michalis8,Nicolaou Stella4,Kyriakides Tassos C.9,Tanteles George A.210,Skordis Nicos11112,Phylactou Leonidas A.12

Affiliation:

1. Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

2. Cyprus School of Molecular Medicine, Nicosia, Cyprus

3. Pediatric Endocrine Clinic, IASIS Hospital, Paphos, Cyprus

4. Division of Pediatric Endocrinology, Makarios III Hospital, Nicosia, Cyprus

5. Alithias Endocrinology Center, Nicosia, Cyprus

6. Dasoupolis Endocrinology Center, Andrea Dimitriou Street Dasoupolis, Nicosia, Cyprus

7. Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Glasgow, UK

8. Iliaktida Peadiatric & Adolescent Medical Centre, Limassol, Cyprus

9. Yale Center for Analytical Sciences, Yale School of Public Health, New Haven, CT, USA

10. Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

11. Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, Nicosia, Cyprus

12. St George’s, University of London Medical School at the University of Nicosia, Nicosia, Cyprus

Abstract

AbstractCongenital 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.

Publisher

Georg Thieme Verlag KG

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,General Medicine,Endocrinology, Diabetes and Metabolism

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