Congenital adrenal hyperplasia

Abstract

In this illustrated case report, 8 month old baby with congenital adrenal hyperplasia (21-hydroxylase deficiency) who was presented with ambiguous genitalia was described.

Keywords

• Disordered sex development,Congenital Adrenal Hyperplasia

Konjenital adrenal hiperplazi

Öz

Bu görüntülü olgu sunumunda şüpheli genitalya ile başvuran 21-hidroksilaz eksikliğine bağlı konjenital adrenal hiperplazili 8 aylık bir bebek sunulmaktadır.

Anahtar Kelimeler

• Cinsel gelişim bozukluğu,Konjenital Adrenal Hiperplazi

Kaynakça

1. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017 May 30. pii: S0140-6736(17)31431-9. doi: 10.1016/S0140-6736(17)31431-9.
2. Nimkarn S, Lin-Su K, New MI. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia. Pediatr Clin North Am. 2011 Oct;58(5):1281-300, xii. doi: 10.1016/j.pcl.2011.07.012.
3. Witchel SF, Azziz R. Congenital adrenal hyperplasia. J Pediatr Adolesc Gynecol. 2011 Jun;24(3):116-26. doi: 10.1016/j.jpag.2010.10.001.
4. Wang LC, Poppas DP. Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: What every endocrinologist should know. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):137-144. doi: 10.1016/j.jsbmb.2016.03.021.
5. Trapp CM, Speiser PW, Oberfield SE. Congenital adrenal hyperplasia: an update in children. Current opinion in endocrinology, diabetes, and obesity. 2011;18(3):166-170. doi:10.1097/MED.0b013e328346938c.