The Prevalence, Molecular Analysis and HLA Typing of Late-onset 21-Hydroxylase Deficiency in Turkish Woman with Hirsutism and Polycystic Ovary

• YARMAN Sema

  Division of Endocrinology, Metabolism and Nutrition, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University

• DURSUN Ali

  Experimental Medicine Research Center of Istanbul University Present address: Department of Pediatrics, Division of Metabolism and Nutrition, Medical School of Hacettepe University

• OGUZ Fatma

  Department of Medical Biology, Istanbul Faculty of Medicine, Istanbul University

• ALAGÖL Faruk

  Division of Endocrinology, Metabolism and Nutrition, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University

抄録

We studied the incidence of late-onset congenital adrenal hyperplasia (LOCAH) due to 2l-hydroxylase (21-OH) deficiency, its molecular genotype expression, and its association with the major histocompatibility complex in 61 women with hirsutism and polycystic ovary. Ultrasound, clinical and hormonal parameters were used to define polycystic ovary syndrome (PCOS). Baseline and ACTH stimulated 17α-hydroxyprogesterone (17-OHP) levels were measured for screening of LOCAH during follicular phase. Forty-one women were diagnosed as having PCOS (67%) and 20 women were diagnosed as having had LOCAH due to 2l-OH deficiency (33%). In LOCAH patients, the most common mutation (Val281-Leu, V281L) was found in 10 patients (7 heterozygous/3 homozygous). The frequency of V281L mutation was found as 32.5% in 20 patients. All patients with the V281L mutation presented HLA-B14 (100%) and six of them presented DR1 (60%), confirming that LOCAH is linked to the histocompatibility complex. Although molecular analysis is a better and more accurate means for an exact and precise definition of LOCAH, it is not routinely available in our country. So, ACTH stimulation test combined with HLA-B14 typing should be more widely utilized in these patients. As a result, LOCAH due to 21-OH deficiency is unexpectedly high in Turkish patients with hirsutism and PCO.<br>

収録刊行物

• Endocrine Journal

  Endocrine Journal 51 (1), 31-36, 2004

  一般社団法人 日本内分泌学会

キーワード

• Late-onset 21-OH deficiency
• HLA-B14
• V281L
• Turkish population

詳細情報

• CRID: 1390282681277531648
• NII論文ID: 130004443097
• NII論文ID: 80016446135
• NII書誌ID: AA10901436
• DOI: 10.1507/endocrj.51.31
• COI: 1:CAS:528:DC%2BD2cXktFegtbc%3D
• ISSN: 13484540
• ISSN: 09188959
• PubMed: 15004406
• Web Site: http://www.jstage.jst.go.jp/article/endocrj/51/1/51_1_31/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2004194454
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • PubMed
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可