ESPE Yearbook of Paediatric Endocrinology

Brief summary: This comprehensive narrative review provides a “Seminar” on congenital adrenal hyperplasia (CAH). The authors performed a thorough comprehensive qualitative summary of articles published mainly in Cochrane Library, MEDLINE, and Embase in English between Jan 1, 2005, and June 30, 2021, while not excluding commonly referenced and highly regarded older publications.Congenital adrenal hyperplasia (CAH) is an ‘umbrella’ clin...

J Clin Endocrinol Metab. 2020; 105(8):dgaa340.https://pubmed.ncbi.nlm.nih.gov/32497228/Here, the authors investigated whether prenatal treatment with dexamethasone (DEX) in the first trimester is associated with alterations of brain morphology on MRI scans. Observed MRI alterations were not linked to any alterations in cognitive function or mood, but were associated with DNA methylation in ...

J Clin Endocrinol Metab. 2020;105(7): e2439-48.https://pubmed.ncbi.nlm.nih.gov/32433752/Here, the authors investigated the effects of dexamethasone (DEX) on metabolism in individuals without CAH but treated with DEX during the first trimester of fetal life. Prenatal DEX exposure was associated with decreased beta-cell function and higher cholesterol concentrations.Pre...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgaa016. PMID: 31927590.Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency requires life-long glucocorticoid (GC) replacement therapy. Previous studies on general cognitive ability in patients with CAH have been conflicting, and the majority focused on intelligence in adult patients. Some studies h...

To read the full abstract: Clin Endocrinol (Oxf). 2017; 87(6): 651-659Patients with CAH are treated with lifelong glucocorticoid (GC) replacement therapy and, for the classic form of the disease, treatment with fludrocortisone is also necessary. During different periods throughout life, it may be difficult to achieve optimal dosing of GC replacement therapy, leading to over- or under-treatment and, t...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(12): 6148–6154. PMID: 31393570.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has an incidence of 1 in 10 000 to 20 000 in most populations. It is one of the most common monogenic autosomal recessive disorders (1). It has been suggested that the condition is common because it may confe...

To read the full abstract: Cereb Cortex. 2020; 30(5): 2777–2788. PMID: 31819952.Congenital adrenal hyperplasia (CAH), most commonly caused by 21-hydroxylase deficiency, is an autosomal recessively inherited life-threatening impairment in cortisol and, in the severe salt wasting form, aldosterone synthesis. The implementation of neonatal screening programs for CAH and the continuous imp...

To read the full abstract: J Endocr Soc. 2018; 3(1): 250–263.Prenatal treatment with dexamethasone (DEX) has been used to avoid virilization in girls with Congenital Adrenal Hyperplasia (CAH). However, it has potential short- and long-term risks and has been associated with cognitive impairments. Here, the authors investigate whether epigenetic modification of DNA during early devel...

Brief summary: This study investigated the brain structure in young adult patients with autoimmune Addison’s disease (AAD). It found that patients with AAD had a 4.3% smaller total brain volume but no major differences in subcortical structures compared to healthy controls.Both short- and long-term disruptions in cortisol concentrations and rhythmicity affect brain structure development. Animal studies have shown that both pre- and postnatal disturb...

Brief Summary: This case-control study compared resting-state functional connectivity (rs-fc) of the brain between patients with autoimmune Addison’s disease (AAD) and healthy controls. The results suggest that AAD affects the baseline functional organization of the brain and that current treatment strategies of AAD may be a risk factor.Comment: Autoimmune Addison disease (AAD) is a form of primary adrenal insufficiency (PAI), in which autoimmune ad...