CONGENITAL ADRENAL HYPERPLASIA: PRESENTATION IN A MALE INFANT
نویسندگان
چکیده
منابع مشابه
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...
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 کاملa case of congenital lipoid adrenal hyperplasia
lipoid congenital adrenal hyperplasia (lipoid cah), a rare disorder of steroid biosynthesis, is the most severe form of cah. in this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. in this report, we presented a ...
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: Journal of Evolution of Medical and Dental sciences
سال: 2013
ISSN: 2278-4748,2278-4802
DOI: 10.14260/jemds/1597