Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia
This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia. The objectives were to attain socio-demographic and medical data on ...
Publication date: Available online 29 August 2020Source: Reproductive BioMedicine OnlineAuthor(s): Ahmad Badeghiesh, Sara Ismail, Haitham Baghlaf, Eva Suarthana, Michael H. Dahan
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...
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.
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]
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.
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.
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.
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...
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.
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 . 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.