ESPE Yearbook of Paediatric Endocrinology

...

Preface: In the last year the scientific community was again very active in research in both topics, differences/disorders of sex development (DSD) and transgender medicine.In DSD, next generation sequencing approaches revealed novel variants in genes so far not suspected to participate in sex development (e.g. MYRF, DHX37, PPP1R12A ). This expands the landscape of genes and proteins involved in DSD and provides further challenges for explaining...

Preface: Our PubMed search for DSD revealed close to 3000 articles and the search for transgender and gender dysphoria about 250 articles for the past 12 months. The topics in DSD were very broad ranging from new and old genes and their mechanism of action to diagnostic themes and new therapeutic options. Additional reports on gender dysphoria with DSD and articles on ethical discussions were published. In transgender, there were many articles on gender dysphoria and autism as...

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...

J Clin Endocrinol Metab. 2021; 106(2): e957–e965.https://pubmed.ncbi.nlm.nih.gov/33135723/The authors investigated the reproductive and perinatal outcomes in women with congenital adrenal hyperplasia (CAH) compared with control women in the largest such population-based study to date. Women with CAH had lower birth rates, were more likely to develop gestational diabetes, and had other ...

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...