Santral Erken Puberte Gelişen Bir 11-Beta Hidroksilaz Eksikliği Vakası

Yıl 2009, Cilt: 3 Sayı: 3, 34 - 37, 01.06.2009

Serap Semiz Özmert M.a. Özdemir Ayşegül Sözeri Özdemir

Öz

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

Öz

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

Anahtar Kelimeler

11b-hydroxylase deficiency, central precocious puberty

Kaynakça

• Levine LS, White PC. Disorders of the adrenal glands. In: Behr- man RE, Kliegman RM, Jenson HB (eds). Nelson Textbook of Pediatrics. 17th ed. Philadelphia: W.B. Saunders, 2004:1898-1921. Speiser PW. Congenital adrenal hyperplasia. In: Pescovitz OH, Eugster EA (eds). Pediatric Endocrinology: Mechanisms, Mani- festations, and Management. 1st ed. Philadelphia: Lippincott Wil- liams and Wilkins, 2004:601-613.
• Nurçin S. Adrenal (Sürrenal). In: Neyzi O, Ertuğrul T (eds). Pe- diatri Kitabı. 3. Baskı. İstanbul:Nobel Tıp Kitabevleri, 2002:1256- 1277.
• New MI. Inborn errors of adrenal steroidogenesis. Mol Cell En- docrinol 2003;211: 75-83.
• New MI, Ghizzoni L. Congenital adrenal hyperplasia. In: Lifshitz F (ed). Pediatric Endocrinology. 4th ed. New York: Macel Dekker, 2003:175-191.
• Wagner MJ, Ge Y, Siciliano M, Wells DE. A hybrid cell mapping panel for regional localization of probes to human chromosome 8. Genomics 1991;10: 114-125.
• Miller WL. The adrenal cortex. In: Sperling MA (ed). Pediatric Endocrinology. 2nd ed. Philadelphia: Saunders, 2002:385-438. White PC, Curnow KM, Pascoe L. Disorders of steroid 11beta- hydroxylase isozymes. Endocr Rev. 1994;15:421-438.
• Geley S, Kapelari K, Johrer K, Peter M, Glatzl J, Vierhapper H, Schwarz S, Helberg A, Sippell WG, White PC, Kofler R. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11beta- hydroxylase deficiency. J Clin Endocrinol Metab. 1996;81: 2896- 2901.
• Garibaldi L. Disorders of pubertal development. In: Behrman RE, Kliegman RM, Jenson HB (eds). Nelson Textbook of Pediat- rics. 17th ed. Philadelphia: W.B. Saunders, 2004: 1863-1870.
• Lee PA. Precocious puberty. In: Pescovitz OH, Eugster EA (eds). Pediatric Endocrinology: Mechanisms, Manifestations, and Ma- nagement. 1st ed. Philadelphia: Lippincott Williams and Wilkins. 2004:316-333.
• Lee PA. Puberty and its disorders. In: Lifshitz F (ed). 4th ed. Pedi- atric Endocrinology. New York: Marcel Dekker.2003:211-238. de Ronde W. Therapeutic uses of aromatase inhibitors in men. Curr Opin Endocrinol Diabetes Obes 2007;14:235-240.