Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review
نویسندگان
چکیده
Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in steroid biosynthesis. In about 90% patients, CAH caused by pathogenetic variants CYP21A2 gene, impairing the function 21-hydroxylase (21-OH) enzyme. can present as classical form (simple virilizing or salt wasting) non-classical (NC-CAH). NC-CAH gene that result 20–70% residual activity 21-hydroxylase. Early diagnosis may be missed, mainly childhood, jeopardizing long-term outcome. This paper will review some information on clinical findings, symptoms, diagnostic approaches, and treatments allowing better management
منابع مشابه
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...
متن کاملNon-Classical Congenital Adrenal Hyperplasia in Childhood
Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in...
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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...
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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...
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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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ژورنال
عنوان ژورنال: Sexes
سال: 2023
ISSN: ['2411-5118']
DOI: https://doi.org/10.3390/sexes4040030