Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea

Author:

Binay Cigdem1,Simsek Enver1,Cilingir Oguz2,Yuksel Zafer2,Kutlay Ozden2,Artan Sevilhan2ORCID

Affiliation:

1. Division of Paediatric Endocrinology, Department of Paediatrics, Osmangazi University, School of Medicine, 26480 Eskisehir, Turkey

2. Department of Medical Genetics, Osmangazi University, School of Medicine, 26480 Eskisehir, Turkey

Abstract

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 ofCYP21A2mutations 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.

Publisher

Hindawi Limited

Subject

Endocrine and Autonomic Systems,Endocrinology,Endocrinology, Diabetes and Metabolism

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