Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia

Condition:   Congenital Adrenal Hyperplasia Interventions:   Drug: Crinecerfont;   Drug: Placebo Sponsor:   Neurocrine Biosciences Not yet recruiting
Source: - Category: Research Source Type: clinical trials

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Publication date: Available online 29 August 2020Source: Reproductive BioMedicine OnlineAuthor(s): Ahmad Badeghiesh, Sara Ismail, Haitham Baghlaf, Eva Suarthana, Michael H. Dahan
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research
Congenital adrenal hyperplasia (CAH) with 17 α-hydroxylase deficiency is a rare disease; patients often require lifetime cortisol treatment. In this case report, we presented a patient with CAH and 17α-hydroxyl...
Source: BMC Endocrine Disorders - Category: Endocrinology Authors: Tags: Case report Source Type: research
ConclusionIn this study, we identified the mutation spectrum ofCYP21A2 gene in Chinese patients, especially the younger age cohort in pediatrics. Micro ‐conversions were the most popular mutations. Moreover, the genotypes and phenotypes were well correlated in this cohort of salt wasting 21‐OHD recruited from neonatal intensive care unit.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
CONCLUSION: We determined etiologies in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/without molecular analysis of candidate genes. ALD was the most common etiology. Nowadays, advanced molecular analyse can be utilized to establish a specific genetic diagnosis of PAI for patients who have no specific diagnostic features. PMID: 32938577 [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
ConclusionsWe have developed and validated a comprehensive NGS-based assay for detection of variants inCYP21A2 gene in patients with 21-OH CAH. We describeCYP21A2 mutation spectrum and novel variants in a large cohort of Indian patients with CAH.
Source: Endocrine - Category: Endocrinology Source Type: research
To assess opinions of females with CAH, and parents of females with CAH, about designating this population “intersex,” particularly in legislation about genital surgery during childhood.
Source: Journal of Pediatric Urology - Category: Urology & Nephrology Authors: Source Type: research
Treatment of children with classic congenital adrenal hyperplasia (CAH) is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment is not well defined.
Source: Metabolism - Clinical and Experimental - Category: Biomedical Science Authors: Source Type: research
Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH), a glycoprotein hormone produced in large amounts by immature testicular Sertoli cells, may be an extremely helpful parameter. In undervirilized 46,XY DSD, AMH is low in gonadal dysgenesis while it is normal or high in androgen insensitivity and androgen synthesis defects. Virilization of a 46,XX newborn indicates androgen action during fetal development, either from t...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Although sufficient evidence is present to support early feminizing genitoplasty, we still have deficient evidence that deferred treatment after age of consent is associated with the best outcome. We still lack evidence concerning many perspectives including the psychological aspect to parents and growing child, outcome of deferred surgery, its complications and its outcome and whether satisfaction of patients with such deferred surgery will be obtained or not.
Source: Journal of Pediatric Urology - Category: Urology & Nephrology Authors: Tags: Letter to the Editor Source Type: research
With interest I have read the article by Elsayed and colleagues on the outcomes of genital surgery in girls with Congenital Adrenal Hyperplasia (CAH) before versus after the age of two [1]. The authors validly mention the unsettled debate on performing genital surgeries on girls with virilized genitalia before the age of consent. In their study the authors, rather than providing conclusive arguments, exhibit the many pitfalls and biases of studying the outcomes of those that received this treatment.
Source: Journal of Pediatric Urology - Category: Urology & Nephrology Authors: Tags: Letter to the Editor Source Type: research
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