Four Clinical Variants of Congenital Adrenal Hyperplasia

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Four 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...

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Congenital 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...

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Classic 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...

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Congenital 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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Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries ...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1964

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.39.203.66