Congenital Adrenal Hyperplasia: clinical symptoms and diagnostic methods
نویسندگان
چکیده
منابع مشابه
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated a...
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 کاملFour Clinical Variants of Congenital Adrenal Hyperplasia.
Three clinical types of congenital adrenogenital virilism due to adrenal hyperplasia have now been well defined. These are simple virilization, virilization with excessive sodium loss and danger to life and virilization combined with hypertension. Clinical subvariants have also been described in association with hypoglycaemia (White and Sutton, 1951; Wilkins, Crigler, Silverman, Gardner and Mig...
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 کاملCongenital adrenal hyperplasia
Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete...
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ژورنال
عنوان ژورنال: Acta Biochimica Polonica
سال: 2018
ISSN: 1734-154X,0001-527X
DOI: 10.18388/abp.2017_2343