Füsun SAYGILI, Ayşin ÖGE, Candeğer YILMAZ

Ege Üniversitesi Endokrinoloji polikliniğine hirsutizm şikayetiyle başvuran kadınlarda geç başlangıçlı konjenital adrenal hiperplazi oranı

Giriş : Klinik bulgularının benzerliği nedeniyle geç başlangıçtı konjenital adrenal hiperplazi (GKAH) hastalığı polikistik over sendromu (PKOS) ve idiopatik hirsutizm (İH) hastalığı ile karıştırılabilir. Hiperandrojenik kadınların %1 ile %10 unda GKAH gözlenmektedir. Biz bu çalışmada hirsutizm şikayetiyle polikliniğimize başvuran kadın olgularda GKAH sıklığını ve bu hastalardaki klinik bulguların şiddetini belirlemeyi amaçladık. Gereç ve Yöntem : Çalışma kapsamına, genel endokrinoloji polikliniğine hirsutizm şikayetiyle başvuran benzer yaş ortalaması ve vücut kitle indeksinde olan 205 kadın olgu ve kontrol grubu olarak 26 normal sağlıklı kadın alındı. Tüm olgularda bazal hormonlar ve ACTH stimulasyon testi ile 17-hidroksiprogesteron (17OHP) ölçüldü. Bulgular: 205 hirsutizmli olgunun 20'si GKAH tanısı (%9.75), 123'ü PKOS (%60), 621 (%30.25) İH tanısı aldılar. Olguların kortizol, ACTH, LH, FSH, testosteron, progesteron seviyelerinde anlamlı bir farklılık bulunmaz iken GKAH'li hastalarda bazal ve ACTH ile stimule 17OHP seviyelerinde anlamlı yükseklik tesbit edildi.Sonuç : Hirsutizm nedeniyle polikliniğe başvuran olguların önemli bir kısmı GKAH vakalarıdır. EÜTF Endokrinolji polikliniğine baş vuran hastalar arasında bu oran %9.75'dir.

Anahtar Kelimeler:

Böbrek üstü bezinin hiperplazisi, doğuştan, Hirsutizm, Polikistik yumurtalık sendromu

The ratio of late-onset congenital adrenal hyperplasia among women with hirsutism admitted to Ege University Endocrinology out patient clinic

Similar clinical features of late-onset congenital adrenal hyperplasia (LOCAH), polycystic ovary syndrome (PCOS) and idiopathic hirsutism (IH) can cause diagnostic problems. The ratio of LOCAH can vary from 1-10 % among hyperandrogenic women. The object of this study is to determine the percentage of LOCAH among hyperandrogenic women admitted to our out-patient clinic. 205 hirsute, 26 healthy age and BMI matched controls were included in this study. Hormone profiles including ACTH stimulation tests were performed in the. folucular phase of their menstruel cycle. 20 out of 205 hirsute women were diagnosed as LOCAH (9.75%), 123 of them as PCOS (60%) and 62 (30.25%) as IH. Significant elevations were observed in basal and stimulated 17 OH progesterone levels of LOCAH, as expected. In conclusion the ratio of LOCAH is not low among hyperandrogenic women. Thorough' evaluations are needed to reach the diagnosis.

Keywords:

Adrenal Hyperplasia, Congenital, Hirsutism, Polycystic Ovary Syndrome,

PDF

___

1. Reboul P, Merceron RE, Cordray JP, Guillerd X, Nys P, Rainaunt M. Adrenal enzymatic block with late-onset caused by 11-hydroxylase deficiency. Apropos of 29 cases. Ann Endocrinol (Paris) 1992;53: 187-195.
2. Pang S. Congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 1997;26: 853-891.
3. New MI. 21-hydroxylase deficiency congenital adrenal hyperplasia. J Steroid Biochem Mol Biol. 1994;48:15-22.
4. Hague WM, Adams J, Roda C, Brook CG, de Bruyn R, Grant DB, Jacobs HS. The prevalence of polycystic ovaries in patients with congenital adrenal hyperplasia and their close relatives. Clin Endocrinol (Oxf) 1990;33: 501-510.
5. Chrousos GP, Loriaux DL, Mann DL, Cutler GB Jr. Late-onset 21-hydroxylase deficiency mimicking idiopatic hirsutism or polycystic ovarian disease. Ann Intern Med 1982;96:143-148.
6. Cobin RH, Futterweit W, Fiedler RP, Thornton JC. Adrenocoticotropic hormone testing in idiopathic hirsutism and polycystic ovarian disease: a test of limited usefulness. Fertil Steril 1985;44: 224-226.
7. Benjamin F, Deutsch S, Saperstein H, Seltzer VL. Prevalence of and markers for the attenuated form of congenital adrenal hyperplasia and hyperprolactinemia masquerading as polycystic ovarian disease. Fertil steril 1986;46:215-221.
8. Carel JC, Marrakchi Z, Roger M, Morel Y, Chaussaün JL. Late diagnoses of 21-hydroxylase deficiencies in children (after the age of 3 years). Ann Pediatr (Paris) 1993;40: 410-420.
9. Peter M, Dubuis JM, Sippel WG. Disorders of the aldosterone synthase and steroid 11beta-hydroxylase deficiencies. Horm Res 1999; 51:211-222.
10.Aziz R, Rafi A, Smith BR, Bradley EL Jr, Zacur HA. On the origin of the elevated 17-hydroxy-progesterone levels after adrenal stimulation in hyperandrogenism. J Clin Endocrinol Metab 1990;70:431-436.
11.Brodie BL, Wentz AC. Late onset congenital adrenal hyperplasia: a gynecologist perspective. Fertil Steril 1987;48: 175-188.
12.Kohn B, Levine LS, POllack MS, Pank S, Lorenzen F, Lew D. Late onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 1982; 55:817-27.
13.Dewailly D, Vantygherm-Haudiquet MC, Sainsard C, Buvat J, Cappoen JP, Ardaens K. Clinical and biological phenotypes in late onset 21 hydroxylase deficiency. J Clin Endocrinol Metab 1986;63:418-23.
14.Aziz R, Dewailly D, Owerbach D. Nonclassic adrenal hyperplasia: current concepts. J Clin Endocrinol Metab 1994;78:810-5.
15.Hatch R, Rosenfield RL, Kim MH, Tredway D. Hirsutism: implications,etiology, and management. Am J Obstet Gynecol 1981;140:815-830.
16.Mantzoros C, Dunaif A, Flier J. Leptin concentrations in the polycystic ovary syndrome. J Clin Endocrinol Metab. 1997;82: 1687-1691.
17.Montague CT, Sadaf Farooqi I, Whitehead JP, Soos MA, Rau H, Wareham NJ, Ciara PS. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997;387:903-907.
18.Miller WL. Genetics, diagnosis, and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 1994; 78:241-246.
19.Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985;37:650-667.
20.Pang S. Congenital adrenal hyperplasia. Baillieres Clin Obstet Gynaecol 1997;11:281-306.
21.Lobo RA, Goebelsmann U. Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian syndrome. Am J Obstet Gynecol 1980;138:720-726.
22.New MI. Nonclassical congenital adrenal hyperplasia and the polycystic ovarian syndrome. Ann N Y Acad Sci 1993;687:193-205.
23.Kuttenn F, Coulline P, Girard F. Late-onset adrenal hyperplasia in hirsutism. N Engl J Med 1985;313:224-231.
24.Kamel N, Tonyukuk M, Emral R, Çorapçıoğlu D, Baştemir M, Güllü S. The prevalence of late onset congenital adrenal hyperplasia in hirsute women from central Anatolia. Endocrine Journal 2003;50:815-823.
25.Şahin Y, Keleştimur F. The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome. Eur J Endocrinol 1997;137:670-674.