Serap SEMİZ, Sözeri Ayşegül ÖZDEMİR, Özmert M. A. ÖZDEMİR

Santral Erken Puberte Gelişen Bir 11-Beta Hidroksilaz Eksikliği Vakası

11-β hidroksilaz eksikliği, konjenital adrenal hiperplazinin ikinci sıklıkta görülen nedenidir. Hastalık otozomal resesif geçişlidir. 11-β hidroksilaz eksikliğinde kortizol ve kortikosteron sentezi bozuktur. 11-β hidroksilaz eksikliğinin klasik formunda, kuşkulu genital yapı, postnatal gelişen virilizasyon ve tuz retansiyonu saptanır. Bu makalede; 3 yaşında iken 11-β hidroksilaz eksikliği tanısı konularak hidrokortizon tedavisi başlanan olgunun, takip ve tedavisi sırasında santral erken puberte gelişmesi ilginç ve vurgulanmaya değer bulunmuştur.

Anahtar Kelimeler:

11-beta hidroksilaz eksikliği, santral erken puberte.

A CASE WITH 11-BETA HYDROXYLASE DEFICIENCY DEVELOPED CENTRAL PRECOCIOUS PUBERTY

11b-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia (CAH). CAH is an autosomal recessive disorder. In 11b-hydroxylase deficiency, synthesis of cortisol and corticosteron are affected. Ambiguous genitalia, postnatal virilization, and salt retantion are present in the classical form of 11b-hydroxylase deficiency. In this article, a 3 year old 11b-hydroxylase deficient patient who was administered hydrocortisone and developed central precocious puberty in the follow up is decided to be interesting and worthy to be presented

Keywords:

11b-hydroxylase deficiency, central precocious puberty,

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