Characteristics and prevalence of non-classical congenital adrenal hyperplasia with a V281l mutation in patients with premature pubarche
Journal of Pediatric Endocrinology and Metabolism, cilt.24, sa.11-12, ss.965-970, 2011 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 24 Sayı: 11-12
- Basım Tarihi: 2011
- Doi Numarası: 10.1515/jpem.2011.354
- Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.965-970
- Anahtar Kelimeler: children, 21-hydroxylase deficiency, non-classical congenital adrenal hyperplasia, premature pubarche, V281L mutation
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
We aimed to determine the prevalence and clinical characteristics of non-classical congenital adrenal hyperplasia (NCCAH) with V281L mutation in patients with premature pubarche. An adrenocorticotrophic hormone (ACTH) stimu-lation test was performed in 14 of the 159 patients with premature pubarche (PP). Patients whose stimulated 17α-hydroxyprogesterone (17-OHP) level on the ACTH test was ≥10 ng/mL underwent a mutational analysis of the CYP21 gene. NCCAH was defined in nine (5.7%) patients, all of whom had the V281L mutation. Four of the NCCAH patients were homozygote and four of them were heterozygote. One other patient was compound heterozygote for V281L mutation and the I2 splice mutation. One of the patients with V281L heterozygous mutation developed true precocious puberty and the other one had rapid progressive early puberty and developed polycystic ovary syndrome. ACTH stimulated 17-OHP ≥10 ng/mL in PP patients is load star to mutation analysis and heterozygote patients should be followed for clinical and biological hyperandrogenism up to completion of the whole 'genome sequence'. © 2011 by Walter de Gruyter Berlin Boston.