Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea
Background. Nonclassic congenital adrenal hyperplasia (NCAH), caused by mutations in the gene encoding 21-hydroxylase, is a common autosomal recessive disorder. In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP), hirsutism, or polycystic ovaria...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2014/768506 |
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| author | Cigdem Binay Enver Simsek Oguz Cilingir Zafer Yuksel Ozden Kutlay Sevilhan Artan |
| author_facet | Cigdem Binay Enver Simsek Oguz Cilingir Zafer Yuksel Ozden Kutlay Sevilhan Artan |
| author_sort | Cigdem Binay |
| collection | DOAJ |
| description | Background. Nonclassic congenital adrenal hyperplasia (NCAH), caused by mutations in the gene encoding 21-hydroxylase, is a common autosomal recessive disorder. In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP), hirsutism, or polycystic ovarian syndrome (PCOS) and to evaluate the molecular spectrum of CYP21A2 mutations in NCAH patients. Methods. A total of 126 patients (122 females, 4 males) with PP, hirsutism, or PCOS were included in the present study. All patients underwent an ACTH stimulation test. NCAH was considered to be present when the stimulated 17-hydroxyprogesterone plasma level was >10 ng/mL. Results. Seventy-one of the 126 patients (56%) presented with PP, 29 (23%) with PCOS, and 26 (21%) with hirsutism. Six patients (4,7%) were diagnosed with NCAH based on mutational analysis. Four different mutations (Q318X, P30L, V281L, and P453S) were found in six NCAH patients. One patient with NCAH was a compound heterozygote for this mutation, and five were heterozygous. Conclusion. NCAH should be considered as a differential diagnosis in patients presenting with PP, hirsutism, and PCOS, especially in countries in which consanguineous marriages are prevalent. |
| format | Article |
| id | doaj-art-8707a38d075d4b4c8a08fb748582a7a1 |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-8707a38d075d4b4c8a08fb748582a7a12025-08-20T03:37:57ZengWileyInternational Journal of Endocrinology1687-83371687-83452014-01-01201410.1155/2014/768506768506Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or OligomenorrhoeaCigdem Binay0Enver Simsek1Oguz Cilingir2Zafer Yuksel3Ozden Kutlay4Sevilhan Artan5Division of Paediatric Endocrinology, Department of Paediatrics, Osmangazi University, School of Medicine, 26480 Eskisehir, TurkeyDivision of Paediatric Endocrinology, Department of Paediatrics, Osmangazi University, School of Medicine, 26480 Eskisehir, TurkeyDepartment of Medical Genetics, Osmangazi University, School of Medicine, 26480 Eskisehir, TurkeyDepartment of Medical Genetics, Osmangazi University, School of Medicine, 26480 Eskisehir, TurkeyDepartment of Medical Genetics, Osmangazi University, School of Medicine, 26480 Eskisehir, TurkeyDepartment of Medical Genetics, Osmangazi University, School of Medicine, 26480 Eskisehir, TurkeyBackground. Nonclassic congenital adrenal hyperplasia (NCAH), caused by mutations in the gene encoding 21-hydroxylase, is a common autosomal recessive disorder. In the present work, our aim was to determine the prevalence of NCAH presenting as premature pubarche (PP), hirsutism, or polycystic ovarian syndrome (PCOS) and to evaluate the molecular spectrum of CYP21A2 mutations in NCAH patients. Methods. A total of 126 patients (122 females, 4 males) with PP, hirsutism, or PCOS were included in the present study. All patients underwent an ACTH stimulation test. NCAH was considered to be present when the stimulated 17-hydroxyprogesterone plasma level was >10 ng/mL. Results. Seventy-one of the 126 patients (56%) presented with PP, 29 (23%) with PCOS, and 26 (21%) with hirsutism. Six patients (4,7%) were diagnosed with NCAH based on mutational analysis. Four different mutations (Q318X, P30L, V281L, and P453S) were found in six NCAH patients. One patient with NCAH was a compound heterozygote for this mutation, and five were heterozygous. Conclusion. NCAH should be considered as a differential diagnosis in patients presenting with PP, hirsutism, and PCOS, especially in countries in which consanguineous marriages are prevalent.http://dx.doi.org/10.1155/2014/768506 |
| spellingShingle | Cigdem Binay Enver Simsek Oguz Cilingir Zafer Yuksel Ozden Kutlay Sevilhan Artan Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea International Journal of Endocrinology |
| title | Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea |
| title_full | Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea |
| title_fullStr | Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea |
| title_full_unstemmed | Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea |
| title_short | Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea |
| title_sort | prevalence of nonclassic congenital adrenal hyperplasia in turkish children presenting with premature pubarche hirsutism or oligomenorrhoea |
| url | http://dx.doi.org/10.1155/2014/768506 |
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