ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Diabetes Care. 2020. doi: 10.2337/dc20-0723Short summary: In this observational cohort of hospitalised COVID-19 patients in Italy, patients who had hyperglycaemia, with or without diabetes, were at higher risk for severe COVID disease than normoglycaemic patients. Insulin infusion was effective for achieving glycaemic targets and reducing mortality in patients...

Nature Digital Medicine 2018;1:39.DOI: 10.1038/s41746-018-0040-6Summary: This prospective observational study evaluated the performance of a diabetic retinopathy diagnostic system (IDx-DR) compared to the gold standard diagnostic for diabetic retinopathy. Nine hundred individuals with diabetes but without a history of diabetic retinopathy were examined. Re...

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: Science 2018;359:1395-1399Brain development and behavior are influenced by early life experiences, such as nutrients, stress, adversity and maternal care. While we believe the epigenome is the mediator, these authors investigated whether the genome itself of individual brain cells could be changed by environmental factors. A possible mechanism relies on mo...

Brief summary: This is a systematic review on the effects of vincristine-containing regimens, commonly considered to have low gonadotoxicity, on human prepubertal testis, after the reports of testicular tissue abnormalities and severely impaired fertility due to vincristine exposure in prepubertal rodents.Twenty-four studies were identified that reported testicular development and fertility after treatment with vincristine-containing regimens. Only 9/24 ...

Brief summary: This study investigated how frequently negative terminology such as ‘fail’ and ‘morbid obesity’ was used in scientific publications dealing with bariatric surgery in peer reviewed journals. 2.4% of the publications analyzed included the term ‘fail’ and 16.8% contained the term ‘morbid’ in conjunction with obesity. This study showed that negative language, blaming the patient for the lack of weight loss or weight regain, wa...

Brief summary: This case series of five patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) treated in Damascus, Syria is presented to highlight the current management, including the difficulties of sex assignment, in this cultural context.In Syria, female infants with 21-hydroxylase deficiency CAH and resulting virilization are generally considered to be male until proven otherwise. This case series reports on the care of five c...

Brief Summary: Countries differ in their approaches to newborn screening (NBS) for congenital adrenal hyperplasia (CAH), a group of genetic disorders affecting adrenal steroidogenesis. This survey describes the protocols, approaches, and outcomes of CAH screening across different countries.Members of the International Society for Neonatal Screening were invited to complete a questionnaire in 2021. Members representing 23 screening programs from Europe, S...

To read the full abstract: Science 2019;363(6424).A wide range of human diseases result from haploinsufficiency, where gene expression is decreased as compared to normal conditions. Haploinsufficiency is a typical mechanism in autosomal dominant disorders. Rare mutations in Sim1 or Mc4r are models of haploinsufficiency causing severe early-onset obesity with hyperphagia...

Brief Summary: This study identifies a novel cause for congenital adrenal hypoplasia and provides evidence that Wnt/β-catenin signaling plays an important role in the development of human adrenal cortex.Comment: Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient glucocorticoids and/or mineralocorticoids. The major cause of childhood-onset PAI is congenital ad...