ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279.This remarkable case report - by authors from Boston Children’s Hospital and funded by Mila’s Miracle Foundation - describes the development and use of a patient-customised antisense oligonucleotide drug that was tailored specifically against the unique DNA sequence mutation in a 6-ye...

To read the full abstract: J Clin Endocrinol Metab 2017; 102 (8): 2670-2677These case reports lead to an important conclusion which changes our diagnostic work-up of early-onset childhood obesity. The authors shows that thorough work-up of clinical cohorts, combined with genetic and epigenetic analyses, can define new characteristic features of known disorders. PHP1A, and surprisingly also PHP1B,...

Brief summary: Using human induced pluripotent stem cells as well as transgenic mouse models, this paper shows that MKRN3 could initiate pubertal onset by regulating hypothalamic development and plasticity.The reactivation of GnRH secretion at puberty is thought to result from a loss in inhibitory input together with an increase in transactivation onto GnRH neurons. The main component of this inhibitory tone was incompletely understood until the discover...

Homozygous familial hypercholesterolemia (HoFH) is a severe disorder caused by genetic mutations in LDLR (encoding the LDL receptor), APOB or PCSK9. LDL-C levels in HoFH are extremely elevated)>400 mg/dL(even in utero, leading to cardiovascular events, and disability or death during childhood and adolescence. Conventional medications have minimal efficacy, since LDL-C levels cannot be reduced through upregulation of hepatic LDL receptors.<p c...

To read the full abstract: Pediatr Rheumatol Online J. 2017Aug 22;15(1):68This large prospective study analysed growth in children with JIA during a 3-year period from diagnosis. Interesting findings emerge: the heights and weights of these patients, clearly compromised in historical cohorts, appeared nearly normal. Increased risk of growth impairment was noted in patients with systemic arthr...

Stem Cell Reports. 2021;16:913–925. doi: 10.1016/j.stemcr.2021.02.011.In analogy to historical data [1], the authors provide important proof of principle that adult thyroid tissues cultivated in vitro show self-renewal and differentiation capacities and might ultimately be of use for regenerative autologous transplantation back into the donor patient affected by hypothyr...

The New England Journal of Medicine 2021;385(5):416-26. doi: 10.1056/NEJMoa2100165Brief Summary: This multicenter observational study assessed the cumulative incidence of diabetic complications in 500 adolescents with Type 2 diabetes (T2DM), followed from 2011 to 2020. After only 13 years from T2DM diagnosis, higher complication rates were observed than those reported for pediatric patients wit...

Genes Dev. 2021;35(5–6):367–378. doi: 10.1101/gad.345686.120.The longstanding concept of thyroid hormone (TH) action is summarized as the canonical switch model. This study adds important aspects of TH action to our current understanding, modifying this longstanding switch model to a “shift” model.According to the current concept, TH dependent gene...

Eur J Endocrinol, 2021. 185(5): p. 691-705. PMID: 34516402Brief Summary: This study evaluated the prevalence of genetic variants in children with idiopathic short stature (ISS) using next-generation sequencing (NGS). Heterozygous variants in known genes involved in skeletal physiology were identified in almost 20% of children. The use of advanced genetic analysis techniques will lead to an increased identification of new genetic variants, expand...

Diabetes Care. 2022 May 20:dc211652. https://pubmed.ncbi.nlm.nih.gov/35594057/Brief Summary: This longitudinal study reports trends in diabetic retinopathy (DR) and macular edema (DME) across 3 decades: 1990-1999, 2000-2009, 2010-2019, in a large Australian cohort of 2404 adolescents with type 1 diabetes (T1D). The prevalence of DR decreased between 1990-1999 and 2000-2009, from 40 to 21%, ...