ESPE Yearbook of Paediatric Endocrinology

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: Pediatr Diabetes. 2018 Jun;19(4):832–839This diabetes team are well known for, and should be applauded for, their holistic approach to diabetes care. Also, the group always points to central aspects of daily routine clinical practice and analyzes critical issues in pediatric diabetes. The aim of this study was to examine whether or not clinician qualities ...

To read the full abstract: Genome Biol. 2018 Jul 9;19(1):85Analyzing 759 plant, fungal and animal genomes, this article describes multiple possible horizontal gene transfer events in bat and frog, finding new parasite vectors of transfer such as bed bug, leech and locust.Junk DNA sequences that can multiply and change their position wi...

To read the full abstract: JAMA Pediatr 2018;172:57-64Corticosteroids are a well-known risk factor for compromised bone health. There have been concerns regarding the use of inhaled corticosteroids in children with asthma. It is often stated that poor disease control is a greater risk for bones than the medication itself. The evidence however has not been overwhelming. Corticosteroids ...

To read the full abstract: Pediatrics. 2018 Apr;141(4)See comment on 6.8....

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: Nature 2017;547:419Since the identification of DNA methylation as a master regulator of genomic imprinting more than 20 years ago, it has been the only known mammalian germline imprinting mark. However, recent studies have identified several imprinted genes capable of maintaining paternal allele-specific expression in the absence of oocyte DNA methylation. Here, t...

In Brief: The authors use cell tracing approaches in a PRMT5flox/Δ Ctsk-Cre strain to label periosteal stem cells (PSCs) and show that PSCs are not only essential for intramembranous bone formation but also for endochondral bone formation. The study identifies the role of PSC derived indian hedgehog (Ihh) in maintaining growth plate homeostasis and postnatal skeletal growth.Commentary: The skeleton harbors stem cells in three independent ...

Brief summary: In this retrospective clinical study Ehua AM et al., reports the diagnostic and management characteristics of 13 individuals whose karyotype could be studied out of 33 DSD patients, followed over 17 years by 2 pediatric surgery departments in Abidjan.Serum testosterone could be measured only in 9 of 13 patients. Four patients were treated medically with topical androgen only. One patient had feminizing genitoplasty, and 2 had masc...

To read the full abstract: BMJ. 2018 Jan 10;360:j5644On the basis of scientific evidence and dietary recommendations, several diet quality scores have been developed to evaluate the healthfulness of dietary patterns. Previous studies show that improvement in adherence to healthy dietary patterns is associated with less weight gain (2, 3, 4). But, until now, no study had assessed the interaction betwe...