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Endocrine Abstracts (2008) 16 P13

1Department of Endocrinology, Erciyes University Medical School, Kayseri, Turkey; 2Department of Nuclear Medicine, Erciyes University Medical School, Kayseri, Turkey; 3Department of Genetics, Erciyes University Medical School, Kayseri, Turkey; 4Tissue Typing Unit, Hadassah Medical Center, Jerusalem, Israel; 5Firat University Medical School, Elazig, Turkey; 6Cumhuriyet University Medical School, Sivas, Turkey; 7Karaelmas University Medical School, Zonguldak, Turkey; 8Dicle University Medical School, Diyarbakir, Turkey; 9Akdeniz University Medical School, Antalya, Turkey; 10Dokuz Eylul University Medical School, Izmir, Turkey; 11Gaziantep University Medical School, Gaziantep, Turkey; 12Ataturk University Medical School, Erzurum, Turkey; 13Karadeniz Teknik University Medical School, Trabzon, Turkey.

Context: The prevalence of NCAH among Turkish women with hirsutism has not been established so far.

Objective: To evaluate the prevalences of 21-hydroxylase (21-OHD) and 11-β hydroxylase deficiencies by ACTH stimulation test among hirsute women.

Patients and methods: The study population consisted of 285 premenopousal women, aged 16–46 years (mean: 23.2±0.3). All were hirsute and hyperandrogenic. Androgen secreting tumors of the ovaries and the adrenal glands were excluded. All the patients were evaluated by 0.25 mg (i.v.) ACTH stimulation test and serum 17-hydroxyprogesterone (17-OHP) and 11-deoxycortisol (11-S) responses were obtained at 30 and 60 min. The diagnosis of NCAH due to 21-OHD was considered in patients in whom the post-stimulation 17-OHP level exceed 10 ng/ml and the cases found were confirmed by CYP21 genotyping. The diagnosis of 11-beta hydroxylase deficiency was made if the adrenal 11-S response to ACTH stimulation exceed three-fold the 95th percentile of controls. The 95th percentile for the 11-S response measured in our healthy subjects was 12.2 nmol/l.

Results: Eight (2.8%) and 18 (6.3%) of the patients had NCAH due to 21-OHD and 11-β hydroxylase deficiency, respectively. The rest of the patients were polycystic ovary syndrome (n: 160, 56.2%) and idiopathic hyperandrogenemia (n: 99, 34.7%).

Conclusion: This is the first and the most extensive national study investigating NCAH prevalence among Turkish population. It should be noted that the prevalence of 11-beta hydroxylase deficiency is higher than 21-OHD in women with hirsutism in this population.

This study was supported by TUBITAK (SBAG – 3170)

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