Hamdi Cihan EMEKSİZ, Şenol ÇİTLİ, Hakan ALTIN

Geç Tanı Almış Komplet Virilize bir 46,XX 11-Beta Hidroksilaz Eksikliği Olgusu

11-? hidroksilaz eksikliği (11 OHD), 21-hidroksilaz (21 OHD) eksikliğinden sonra ikinci en sık görülen konjenital adrenal hiperplazi nedenidir. Her iki enzim eksikliği de 46,XX olgularda komplet virilizasyona (Prader evre 5) yol açabilir. 11 OHD vakalarının büyük kısmında görülen hipertansiyon, bu enzim eksikliğini klinik olarak 21 hidroksilaz eksikliğinden ayırır. Bu makalede boy kısalığı nedeniyle çocuk endokrin polikliniğine başvuran; hipertansiyonu, yaygın hiperpigmentasyonu ve yüzünde akneleri bulunan, genital muayenesinde dış genitalyasının erkek görünümünde olmasına rağmen gonadları palpe edilemeyen ve bu bulgular ışığında yapılan ileri değerlendirmesi sonucunda 11 OHD tanısı alan 16 yaşında komplet virilize bir 46,XX olgusu sunulmuştur.

A Lately Diagnosed 11-beta Hydroxylase Deficiency in a 46,XX Case with Complete Virilization

11-? hydroxylase deficiency (11 OHD) is the second most frequent type of congenital adrenal hyperplasia other than 21-hydroxylase deficiency. Both type of enzyme deficiencies may lead to complete virilization (prader stage 5) in 46,XX individuals. Majority of the cases with 11 OHD manifest hypertension which distinguish this disorder from the more common 21-hydroxylase deficiency. Herein we reported a 16-year old boy who presented to the pediatric endocrinology outpatient clinic with the complaint of short stature and was found to have hypertension, hyperpigmented skin, facial acne and nonpalpable gonads despite his male-appearing external genitalia. Based on these findings, further evaluation revealed the diagnosis of 11 OHD, resulting in complete virilization in a 46,XX patient.

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