ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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Congenital Adrenal Hyperplasia: Medical Education
Dr. Ayşe Nur İZOL TORUN,a Dr. Mustafa KULAKSIZOĞLU,a Dr. Neslihan BAŞÇIL TÜTÜNCÜa
aEndokrinoloji BD, Başkent Üniversitesi, Araştırma ve Uygulama Hastanesi, ANKARA
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder in which one of the five enzymes of cortisol production pathway is deficient. 21-Hydroxylase deficiency is the most frequent type. Because the degree of enzyme deficiency is variable, clinical picture also varies. Androgen overproduction accompanies cortisol deficiency; concomitant aldosterone deficiency is not a rule. It is classified as classical and nonclassical forms. The degree of aldosterone deficiency determines the subtypes of the classical form whether salt wasting or not. Although there are differences among special populations or geographical areas, the incidence is reported to be one in every 15.000 births. Ambiguity of the genitalia is the typical presentation among girls with classical CAH. The clinical picture among boys with classical CAH may be insignificant at birth; they may not be recognized until the first week, when vomiting, weight loss, lethargy, hyponatremia, hyperkalemia and dehydration occur. Classical non-salt wasting cases show virilization at early childhood. Random high 17-hydroxyprogesterone levels are diagnostic for classical cases. Cosyntropin stimulation test may be helpful in suspected cases and genetic testing supports the diagnosis. Supraphysiologic doses of glucocorticoids are needed to suppress the excess androgen secretion. In the classical salt wasting form, fludrocortisone is the treatment of choice for mineralocorticoid replacement. Surgical correction of ambiguous genitalia is advised at early ages of childhood. Genetic consultation is advised for all affected families. Although it is not in routine practice, current advances in gene therapy are promising.Keywords: Adrenal hyperplasia, congenital; hirsutism; prenatal diagnosisTurkiye Klinikleri J Med Sci 2007, 27:261-271
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