Congenital adrenal hyperplasia
Küçük Resim Yok
Tarih
2007
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Congenital adrenal hyperplasia (CAH) is a group of disease characterized by deficencies of enzymes involved in synthesis of glucocorticoids, mineralocorticoids, and androgens. It is inherited in an autosomal recessive pattern. Steroids before blockade accumulate while those after blockade are produced in scanty amounts. There are six subtypes. The most common defect is 21-hydroxylase deficiency. Clinical presentation varies from severe salt loss from lack of mineralocorticoid acitivity, virilization, ambiguous genitalia, precocious puberty, short stature, and gynecomastia. Diagnosis is established by increased plasma levels of steroids before blockade and their urinary metabolites. ACTH stimulation test is done for determinate cases. Molecular genetic analysis yield mutations. In prenatal period, molecular genetic analysis provides recognition of CAH earlier than hormonal evaluation does. Symptoms and signs vanish in most cases with glucocorticoid and fludrocortisone replacement therapy. Prenatally diagnosed patients can be treated with dexamethasone during gestation. Plastic repair, antiandrogens, estrogen, and growth hormone replacement are other adjunctive therapies.
Açıklama
Anahtar Kelimeler
Androgen; Antiandrogen; Dexamethasone; Estrogen; Fludrocortisone; Glucocorticoid; Growth Hormone; Mineralocorticoid; Steroid 21 Monooxygenase; Tetracosactide; Article; Autosomal Recessive Inheritance; Clinical Feature; Congenital Adrenal Hyperplasia; Corticotropin Test; Enzyme Deficiency; Genital Malformation; Gynecomastia; Human; Molecular Genetics; Precocious Puberty; Short Stature; Sodium Depletion; Steroid 21 Monooxygenase Deficiency; Symptom; Virilization
Kaynak
SENDROM
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
19
Sayı
6
