ESPE Yearbook of Paediatric Endocrinology

Orphanet J Rare Dis 2020 15:321. doi: 10.1186/s13023-020-01602-6– In Pakistan, there is presently no systematic neonatal screening for congenital hypothyroidism and other inborn errors of metabolism– A review of published articles was performed to calculate a probable estimate of the disease burden in the Pakistani populationMansoor highlights the fact t...

Brief summary: This commentary focuses on the barriers and opportunities of digital systems with regards to diabetes care in resource-limited settings. It highlights the importance of developing context-specific and cost-effective models of efficient, integrated, and organised diabetes care delivery.This commentary builds on a more general article on the potential of digital health interventions (1). It focuses on the opportunities for better diabetes ca...

Ann Endocrinol (Paris). 2020 Jun;81(2–3):83–88. doi: 10.1016/j.ando.2020.04.004. PMID: 32340851This short review summarises the history and current knowledge of molecular genetic aspects of the human gonadal differentiation toward ovary.Major scientific milestones on the topic are described. It is interesting to learn on what grounds it was common doctri...

J Steroid Biochem Mol Biol. 2020; 200:105684.https://pubmed.ncbi.nlm.nih.gov/32360359/In this mouse cell model, the authors show that metformin appears to directly inhibit signaling of MC2R (the ACTH receptor) and also MC3R.Metformin is used to treat type 2 diabetes and obesity, and may reduce the androgen excess in women with polycystic ovary syndrome (PCOS) or conge...

To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):551–573.This review provides a state of the art in the field of hyperinsulinaemic hypoglycemia (HH). The physiology of insulin secretion is discussed followed by the classification of the different subtypes of HH and then a detailed description of all the monogenic forms of HH. Novel forms of HH, such as...

Cochrane Database Syst Rev, 2021. 10: p. CD004447 PMID: 34618915Brief Summary: This systematic review examined the effects of rhGH treatment in children with X-linked hypophosphatemia. Despite a significant improvement in height SDS from baseline, evidence from the 2 identified studies was limited to support its clinical use in these patients.X-linked hypophosphatemia (XLH) is an inherited disorder of phosphate homeostasis...

To read the full abstract: J Endocrinol. 2019; 242(1):T69–T79.Maternal exposure to glucocorticoid therapy, or stress and anxiety during pregnancy, have been linked to alterations in the exposed offspring in their functioning of the hypothalamic-pituitary-adrenal (HPA) axis and stress-related behaviours. Moreover, it appears that these effects are maintained across multiple generatio...

Proc Natl Acad Sci U S A. 2021 Nov 9;118(45):e2109721118. doi: 10.1073/pnas.2109721118. PMID: 34732576.Brief Summary: In a mouse model of KATP neonatal diabetes mellitus, this study examined the mechanisms of cognitive deficits and development delay observed in some patients with this form of diabetes. The cognitive deficits and development delay appeared to be independent of the diabetes per...

To read the full abstract: Cell Metabolism 2019;30:952–962. e5.These authors report that high-fat diet (HFD) in mice induces a dynamic increase in uncoupling protein 2 (Ucp2) mRNA expression in hypothalamic microglia. Ucp2 is required for HFD-induced mitochondrial changes in hypothalamic microglia and for HFD-induced inflammation, obesity, and POMC synaptic plasticity.The brain plays a major role in the regulation of ...

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...