Classic congenital adrenal hyperplasia and puberty
نویسندگان
چکیده
منابع مشابه
Classic congenital adrenal hyperplasia and puberty.
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of glucocorticoids and often mineralocorticoids, adrenal hyperandrogenism and impaire...
متن کاملClassic congenital adrenal hyperplasia.
Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagn...
متن کاملClassic congenital adrenal hyperplasia: A delayed presentation
Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puber...
متن کاملCongenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...
متن کاملCongenital adrenal hyperplasia- presenting as central precocious puberty
Results 3 were boys, out of which 2 were twins. 3 boys were diagnosed to have CAH after presentation to the OPD. They had mean bone age of 12 years. They had elevated testosterone (mean : 2.4 ng/ml) and 17 hydoxyprogesterone ( mean : 24 ng/ml ) at presentation. They had clinical (testicular volume 5ml) and biochemical (mean basal LH : 6 ng/ml )evidence of central precocious puberty. The girl wa...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2004
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje.0.151u077