Adrenogenital sendrom
Konjenital adrenal hiperplazisi
Kalıtsal - AR
21-hydroxylase enzimi eksikliği
Sürrenal korteksi konjenital hiperplazisi
Adrenokortikal hiperfonksiyon (androjen hipersekresyonu)
Hastalar androjen hormon etkisi altında
Kan kortizol düzeyleri düşük
Tuz kaybı atakları
Kız çocuklarında daha fazla (psödohermafroditizm)
Dış genital organlar gelişir, klitoris büyür (erkek cinse benzeme eğilimi)
Yaşıtlarından uzun boylu ve gelişmiş kaslar (Herkül çocuk)
Memeler küçük
Amenore
Erkek çocuklarda yalancı erken cinsel gelişme
Doğumdan hemen sonra penis büyür, kıllanma başlar
Epifiz kıkırdakları erken kapanır
Yenidoğanların derisinde melanin pigmentasyonu
Yaş ilerledikçe hipertansiyon, hipoglisemi ve kısırlık
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Joint LWPES/ESPE CAH Working Group. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Journal of Clinical Endocrinology & Metabolism, 87(9):4048-4053, 2002
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Brook C, Clayton P, Brown R (eds) Brook's Clinical Pediatric Endocrinology, 5th edt., Blackwell Publishing, Oxford, 2005
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Trinh L, Nimkarn S, New MI, Lin-Su K. Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Pediatric Endocrinology & Metabolism, 20:883–891, 2007
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Gastaud F, Bouvattier C, Duranteau L, et al. Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. Journal of Clinical Endocrinology & Metabolism, 92:1391–1396, 2007
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Bachelot A, Chakthoura Z, Rouxel A, et al. Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults. Hormone Research, 69:203–211, 2008
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Escobar-Morreale HF, Sanchon R, San Millán JL. A prospective study of the prevalence of nonclassical congenital adrenal hyperplasia among women presenting with hyperandrogenic symptoms and signs. The Journal of Clinical Endocrinology & Metabolism, 93:527–533, 2008
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Fanta M, Cibula D, Vrbíková J. Prevalence of nonclassic adrenal hyperplasia (NCAH) in hyperandrogenic women. Gynecological Endocrinology, 24:154–157, 2008
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Huynh T, McGown I, Cowley D, Nyunt O, Leong GM, Harris M, Cotterill AM. The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clinical Biochemist Reviews, 30(2):75-86, 2009
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Arlt W, Willis DS, Wild SH, et al. Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. The Journal of Clinical Endocrinology & Metabolism, 95:5110–5121, 2010
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Gidlöf S, Falhammar H, Thilén A, et al. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. Lancet Diabetes & Endocrinology, 1(1):35-42, 2013