Endocrine Abstracts (2017) 49 EP1129 | DOI: 10.1530/endoabs.49.EP1129

NCAH prevalance with novel CYP21A2 and CYP11B1 mutations in hirsut turkish women

Seher Polat1, Sülbiye Karaburgu3, Kürsad Ünlühizarci3, Munis Dündar2, Yusuf Özkul2, Züleyha Karaca3 & Fahrettin Kelestimur3


1Erzincan University, Department of Medical Genetics, Erzincan, Turkey; 2Erciyes University, Department of Medical Genetics, Kayseri, Turkey; 3Erciyes University, Department of Endocrinology, Kayseri, Turkey.


Introduction: Hirsutism affects 5–8% of the whole female population. In most patients, hirsutism is associated with hyperandrogenemia and the most common cause of androgen excess is polycystic ovary syndrome; however, the clinical presentation of non-classical congenital adrenal hyperplasia(NCAH) in females is often indistinguishable from other hyperandrogenic disorders because of common clinical signs with hirsutism and poly cystic ovary syndrome(PCOS).

Objective: The aim of the study is to evaluate the prevalence of NCAH in woman presenting with hirsutism and distinguish the underlying causes.

Subject and Method: 122 women admitted to the Endocrinology Clinic at Erciyes University Hospital with hirsutism enrolled the study voluntarily between January 2013 and December 2014. All protein encoding exons and exon-intron boundaries of CYP21A2, CYP11B1, HSD3B2 and CYP21A2 promoter changes determined by direct gene sequencing from genomic DNA isolated from peripheral blood leukocytes.

Results: Detailed clinical, hormonal and DNA sequencing analyses of the volunteers have resulted in 91 (74.6%) PCOS, 12 (9.8%) IHA, 14 (11.4%) IH and 5 (4.1%) NCAH. All NCAH were steroid 21-hydroxylase deficient and there was neither 11B-hydroxylase nor 3-beta-hydroxysteroid dehydrogenase deficient NCAH. Sequencing analyses revealed 5 novel mutations; A89V (c.266 C>T), M187I (c.571 G>A) and G491S (c.1471 G>A) located on CYP21A2 and V188I (c.562 G>A) and G87A (c.260 G>C) located on CYP11B1 gene in homozygous and heterozygous states.

Conclusion: NCAH prevalence in Turkish woman with hirsutism found higher compare to similar studies. It might be because of not only doing sequencing analyses of CYP21A2 but also promoter region since 3 of them have promoter changes in addition to protein coding. However, the study confirmed that promoter region of the CYP21A2 should be sequenced as well for true genetic diagnosis and genetic counselling.

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