Congenital adrenal hyperplasia due to 17-alpha hydroxylase deficiency with hypertensive encephalopathy, hypoglycemic seizures and adrenal insufficiency
Narendra KumarJournal of Anaesthesiology Clinical Pharmacology 2018 34(2):261-262
CONCLUSIONS: The relationship between mineralocorticoid dose and PRC is complex and this may reflect variability in sampling with respect to posture, timing of last mineralocorticoid dose, adherence and concomitant medications. Our data suggests that mineralocorticoid titration should not primarily be based only on PRC normalization, but also on clinical parameters as BP and electrolyte concentration. PMID: 31613957 [PubMed - as supplied by publisher]
We report two cases to emphasize the importance of establishing a prompt diagnosis of CAH in male neonates, presenting with a clinical picture initially suggestive of neonatal sepsis. Inadequate response owing to delayed diagnosis in these cases may result in rapid deterioration and increased morbidity and mortality. PMID: 31584344 [PubMed - as supplied by publisher]
Conclusion: To the best of our knowledge, this is the first description of autoimmune adrenalitis in a patient with 3βHSD2 deficiency and suggests a possible association between AAD and inborn errors of the steroidogenesis.
Conclusion: The HIV drug efavirenz inhibits CYP21A2 activity in vitro through direct interaction with enzyme catalysis at therapeutic concentrations. This may have clinical implications for HIV treatment in children and adults. However, so far, clinical data are scarce, and further studies are needed to be able to draw clinical conclusions.Horm Res Paediatr
AbstractThe aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their files. The study population consisted of 120 children (73 boys, 47 girls) and comprised 904 patient years. Median age at diagnosis was 0.3 years (0–17.5). Thirty-one AC events in 26 children occurred during the study period, accounting for a frequency of 3.4 crises/100 patient years. Fifty-t...
In conclusion, gene analysis is important for the diagnosis of AHC and for genetic counseling. PMID: 30617386 [PubMed - in process]
Conclusion: Patients with nonclassic LCAH preserve ovarian function, which enables normal pubertal development and a successful pregnancy outcome without progesterone replacement therapy. PMID: 30476142 [PubMed - as supplied by publisher]
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common cause of primary adrenal insufficiency in children. Current guidelines recommend the use of perioperative stress dose (s...
Conclusions: Peripheral precocious puberty was the atypical presentation of 2 rare genetic diseases. The use of NGS made the characterization of these 2 cases with similar clinical phenotypes caused by 2 different genetic defects possible.Horm Res Paediatr
CONCLUSION: The incidence of CAH due to classical 21-OHD is higher in Turkey in comparison to previous reports. Thus, it is suggested to add CAH to newborn screening panel in Turkey. The use of steroid profiling as a second-tier test improves the efficacy of the screening and reduces false-positives. PMID: 30111524 [PubMed - as supplied by publisher]