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Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea
Joint Authors
Artan, Sevilhan
Binay, Cigdem
Cilingir, Oguz
Yuksel, Zafer
Kutlay, Ozden
Simsek, Enver
Source
International Journal of Endocrinology
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-03-23
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Binay, Cigdem& Simsek, Enver& Cilingir, Oguz& Yuksel, Zafer& Kutlay, Ozden& Artan, Sevilhan. 2014. Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea. International Journal of Endocrinology،Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-1036583
Modern Language Association (MLA)
Binay, Cigdem…[et al.]. Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea. International Journal of Endocrinology No. 2014 (2014), pp.1-7.
https://search.emarefa.net/detail/BIM-1036583
American Medical Association (AMA)
Binay, Cigdem& Simsek, Enver& Cilingir, Oguz& Yuksel, Zafer& Kutlay, Ozden& Artan, Sevilhan. Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea. International Journal of Endocrinology. 2014. Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-1036583
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1036583