Noninvasive prenatal testing: Effective, safe, preferred by parents
(European Society of Human Genetics) UK researchers say that none-invasive prenatal testing is feasible, acceptable to parents, and could be introduced into the National Health Service. The same team also found that the technique was effective in the prenatal diagnosis of congenital adrenal hyperplasia, which exposes a female fetus to male hormones and can result in the development of masculinized external genitalia.
CONCLUSION: Females with CAH had frequent and severe behavioral symptoms. Excess androgenization, which was in part due to suboptimal steroid therapy, was the cause of the behavioral problems. Therefore, early optimization of CAH management should be stressed to prevent psychological consequences. PMID: 32740726 [PubMed - as supplied by publisher]
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 ...
Background: Decreased bone mineral density (BMD) is a concern in patients with congenital adrenal hyperplasia (CAH) due to lifelong glucocorticoid replacement. Studies till date have yielded conflicting results. We wanted to systematically evaluate the available evidence regarding BMD in adult patients with CAH.Methods: We searched Medline, Embase and Cochrane Central Register of Controlled Trials to identify eligible studies. Studies comparing BMD in CAH patients with age- and sex-matched controls were included. Age
Prostatic-type differentiation in the lower female genital tract is encountered rarely and its causes and clinical associations are not well established. Within the vagina, reports to date have invariably described ectopic prostatic-type differentiation as restricted to the lamina propria. We recently encountered a patient receiving testosterone for gender dysphoria whose vaginectomy specimen showed a prostatic glandular proliferation within the surface epithelium. To elucidate its potential association with androgen exposure, we sought similar lesions, resected over a 26-year period, from patients with exogenous or endoge...
Condition: Congenital Adrenal Hyperplasia Interventions: Drug: Crinecerfont; Drug: Placebo Sponsor: Neurocrine Biosciences Recruiting
In conclusion, CYP21A2 variant detection has implications in the genetic diagnosis of PP phenotype. The genetic characterization of the CYP21A2 gene is important for characterizing the variable phenotype of carriers and genetic counseling of PP and NC-CAH patients. PMID: 32714392 [PubMed]
Condition: Congenital Adrenal Hyperplasia Interventions: Drug: Crinecerfont; Drug: Placebo Sponsor: Neurocrine Biosciences Not yet recruiting
CONCLUSION: In any young patient with AI not due to congenital adrenal hyperplasia, Allgrove syndrome should be ruled out. Though mineralocorticoid sparing pattern is classical, it can rarely be involved, as seen in the index case. Various components of the syndrome, as well as amyotrophy and other neurologic features, may present in a metachronous fashion. Hence, a high index of clinical suspicion can aid in early diagnosis and management. PMID: 32700293 [PubMed - as supplied by publisher]
Authors: Longoria-Dubocq T, Torres-Aguiar R, Ruiz-Vega K, De Ayala-Hillmann R, Lopez-Enriquez R Abstract Adrenal incidentalomas are tumors located in the adrenal glands and found on imaging done for purposes not related to adrenal disease. In other cases adrenal mases can be radiologically found when an adrenal hormone secreting tumor is suspected, such as a pheochromocytoma or Cushing's diseases. Adrenal incidentalomas may be classified as functional or non-functional based on whether they produce hormones, such as aldosterone, cortisol, and androgens, or catecholamines. Studies indicate that around 8% of adrenal ...
Conclusion: Early collection of specimens necessitated by early discharge resulted in milder CAH cases falling below the screening 17-OHP cutoff. In our program 25% of cases were detected on a routine second screen.Horm Res Paediatr