نتایج جستجو برای: congenital adrenal hyperplasia
تعداد نتایج: 200591 فیلتر نتایج به سال:
The concentration of 170H-progesterone was measured in amniotic fluid samples collected from 55 mothers who had previously had a child with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In eight pregnancies the levels of 170H-progesterone were raised; the parents elected to terminate in four and examinations of the fetus confirmed the diagnosis of congenital adrenal hyperplas...
PURPOSE The purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype. METHODS This was a retrospective study of the patients with congenital adrenal hyperplasia in the pediatric outpatient clinic at the Samsung Medical Center from November 1994 to December 2...
BACKGROUND Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation of steroid metabolites, indicating impaired activity of 17alpha-hydroxylase and 21-hydroxylase. However, no mutations have been reported in the CYP17 and CYP21 genes, which encode these P450 enzymes. Affected girls are born with ambiguous genitalia, but their circulati...
Background 3b-hydroxysteroid dehydrogenase type 2 (3bHSD2) is the key enzyme converting Δ5-steroids to Δ4-ketosteroids in adrenal and gonadal steroidogenesis. Severe lossof-function mutations of HSD3B2 gene encoding for this enzyme cause the rare form of congenital adrenal hyperplasia, “3bHSD deficiency”. Affected individuals have salt losing, adrenal insufficiency and ambiguous genitalia in bo...
1. Describe the pathophysiology of congenital adrenal hyperplasia (CAH). 2. Characterize the signs and symptoms of CAH. 3. Describe the appropriate laboratory evaluation of CAH. 4. Know that CAH can be diagnosed prenatally. 5. Recognize adrenal insufficiency by laboratory and clinical evaluation. 6. Anticipate and plan treatment for both acute adrenal crisis and long-term therapy for a patient ...
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