Plasma metabolomic profile varies with glucocorticoid dose in patients with congenital adrenal hyperplasia

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Plasma renin activity profile of patients with congenital adrenal hyperplasia in Semarang, Indonesia: a preliminary study

Congenital Adrenal Hyperplasia (CAH) is an adrenal disorders due to impaired activity of one of the enzymes required for cortisol and aldosterone biosynthesis. One of the subtypes of CAH is the salt-wasting (SW) form which there is a renal salt loss due to aldosterone deficiency. Plasma Renin Activity (PRA) is the main index used to evaluate the mineralocorticoid control in CAH. PRA testing is ...

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Fertility in patients with congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is the most frequently encountered genetic steroid disorder affecting fertility. Steroid hormones play a crucial role in sexual development and reproductive function; patients with either 21- hydroxylase or 11β-hydroxylase deficiency thus face immense challenges to their fertility. Given the relevance of CAH in reproductive medicine as well as the diagnostic...

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Testicular Adrenal Rest Tumors in Patients with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia refers to a group of autosomal recessive disorders caused by a deficiency of an enzyme involved in the synthesis of glucocorticoids. The enzyme deficiency generally leads to a deficiency of cortisol and/or aldosterone production within the adrenal cortex. The lack of glucocorticoids generally leads to elevated levels of plasma corticotropin (ACTH), which often res...

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congenital adrenal hyperplasia: experience in iranian patients

results out of 617 patients, 79.6% had 21-hydroxylase deficiency (21-ohd). in 21-ohd group 94.5% had classical type and 5.5% were non-classic. among the classic type 78% had salt-wasting form (sw) and 22% simple virilizing (sv). both 21-ohd-sv and sw were diagnosed more frequently in females. frequency of other types were as follow: 11-hydroxylase deficiency (11-ohd), 13.3%; 3ß-hydroxysteroid d...

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Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia

Background. Pediatric CAH patients have an increased risk of cardiovascular disease, and it remains unknown if genetic predisposition is a contributing factor. Glucocorticoid receptor gene (NR3C1) polymorphisms are associated with an adverse metabolic profile. Our aim was to analyze the association between the NR3C1 polymorphisms and the metabolic profile of pediatric CAH patients. Methods. For...

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ژورنال

عنوان ژورنال: Scientific Reports

سال: 2017

ISSN: 2045-2322

DOI: 10.1038/s41598-017-17220-5