Quality of life, steroid use assessed in adults with CAH (Endocrine Today, 28 June 2013)

A new study from the Society's Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) has found that patients with CAH have a negative perception of their quality of life. This is in relation to their weight and the dose and type of medication they take.  The research was published in the European Journal of Endocrinology. Full article (site registration may be required) CAH Adult Study Executive
Source: Society for Endocrinology - Category: Endocrinology Source Type: news

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Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Conclusion: We present 20 years of experience in DSD gender assignment recommendations, and find that the etiologic diagnosis, psychiatric gender orientation, expectation of the family, phallus length and Prader stage were effective in the gender assignment in DSD cases (especially the first two substances). It is important to share these experiences among the medical professionals who are routinely charged with this difficult task in multidisciplinary councils. PMID: 32212580 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
Phys. Chem. Chem. Phys., 2020, Accepted Manuscript DOI: 10.1039/D0CP00763C, PaperBai-Hui Lin, Hong-Xing Zhang, Qing-Chuan Zheng Congenital adrenal hyperplasia (CAH) is one of the most frequent inborn errors of metabolism, inherited in an autosomal recessive trait. Above 95% cases of CAH are caused by mutations in... The content of this RSS Feed (c) The Royal Society of Chemistry
Source: RSC - Phys. Chem. Chem. Phys. latest articles - Category: Chemistry Authors: Source Type: research
Horm Metab Res 2020; 52: 186-193 DOI: 10.1055/a-1100-706617-Hydroxylase-deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The aim of the work was to study clinical, biochemical, and the follow up of 17OHD patients and evaluate the function and structure of CYP17A1 mutations. Brazilian patients (three 46, XX and four 46, XY; 17±1.9 years) with combined 17-hydroxylase/17,20-lyase deficiency were evaluated. CYP17A1 gene was sequenced. Functional analysis was performed transfecting COS7 cells, which were exposed to progesterone or 17α-hydroxypregnolone ...
Source: Hormone and Metabolic Research - Category: Endocrinology Authors: Tags: Endocrine Care Source Type: research
CONCLUSIONS: There are currently limited trials comparing the efficacy and safety of different glucocorticoid replacement regimens for treating 21-hydroxylase deficiency CAH in children and adults and we were unable to draw any firm conclusions based on the evidence that was presented in the included trials. No trials included long-term outcomes such as quality of life, prevention of adrenal crisis, presence of osteopenia, presence of testicular or ovarian adrenal rest tumours, subfertility and final adult height. There were no trials examining a modified-release formulation of HC or use of 24-hour circadian continuous sub...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Abstract RCCX haplotypes with two copies of the CYP21A2 gene and one copy of the CYP21A1P pseudogene have been widely described in different populations. In most cases, the CYP21A2-like gene downstream of the TNXA gene showed a wild-type sequence or the c.293-13A/C > G variant while the CYP21A2 gene next to TNXB carried the p.(Gln319Ter) variant. Here is the discovery of a novel rare CYP21A2 haplotypes detected in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH). The molecular family study was performed clarifying the previously found phenotype-genotype discrepancy. ...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
Conclusion: Turkish neonatal CAH screening effectively leads to the early diagnosis of 21-OHD and 11β-OHD by the use of steroid profiling as a second-tier test allowing for better care of these patients in the future. PMID: 32157855 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research
ConclusionChildren/adolescents with CAH showed good overall adjustment. The clinical significance of the parentally perceived increase in social problems in children/adolescents with CAH requires further investigation. The findings underline the importance of psychological support for children/adolescents with a chronic condition.
Source: Endocrine - Category: Endocrinology Source Type: research
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Exp Clin Endocrinol Diabetes DOI: 10.1055/a-1108-1419Congenital Adrenal Hyperplasia is a group of genetic autosomal recessive disorders that affects adrenal steroidogenesis in the adrenal cortex. One of the most common defects associated with Congenital Adrenal Hyperplasia is the deficiency of 21-hydroxylase enzyme, responsible for the conversion of 17-hydroxyprogesterone to 11-deoxycortisol and progesterone to deoxycorticosterone. The impairment of cortisol and aldosterone production is directly related to the clinical form of the disease that ranges from classic or severe to non-classic or mild late onset. The deficiency...
Source: Experimental and Clinical Endocrinology and Diabetes - Category: Endocrinology Authors: Tags: Review Source Type: research
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