ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Endocrine Society 2020; 4 (2): 1–13. doi: 10.1210/jendso/bvz013• The authors performed a retrospective analysis of the economic burden in a cohort of 195 patients with genetically confirmed CAH born in São Paulo where there is presently no neonatal screening for CAH.• The cost associated to mortality of undiagnosed patients was estimated to ra...

To read the full abstract: Endocrinology. 2019;160:1363–1376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

Abstract: PLoS Biol. 2018 Jul 23;16(7):e2005263.In brief: In this article, Lui et al, make important observations related to the fundamental limits of longitudinal bone growth implicating the growth plate senescence program as a major regulator of bone size.Comment: A person’s right and left arms almost always grow to the same length, bu...

Lancet Public Health 2018;3:e419–e428.DOI 10.1016/S2468-2667(18)30135-XURL: http://www.ncbi.nlm.nih.gov/pubmed/30122560Summary: The long-term effects on health outcomes of dietary carbohydrate intake was investigated in a large prospective cohort of 15,428 US adults aged 45–64 years with 25 years foll...

Lancet Diabetes Endocrinol 2019; 7: 231–40. DOI: 10.1016/S2213-587(19)30026-9• This study uses quantitative data from reputable global data sets to demonstrate that the epidemiology of obesity can be framed as a conceptual model of obesity transition.• A new framework to classify the obesity epidemic is proposed that may assist policy makers and r...

To read the full abstract: J Clin Endocrinol Metab. 2018 Mar 1;103(3):1042-1047See Comment under 2.4....

To read the full abstract: JAMA. 2017;318:1891-1902Insulin is one of the autoantigens involved in the pathogenesis of T1DM. Therefore several trials with insulin given orally, nasal or subcutaneous have been conducted to prevent the development of T1DM in genetically high risk populations. This trial design built on the results of DPT-1 and included further investigations related to first phase...

To read the full abstract: Diabetes Care 2017;40:1082-1089Transcription factor 7-like 2 (TCF7L2) is a protein encoded by the TCF7L2 gene located on chromosome 10q25.2-q25.3 and is involved in the development of a wide variety of cell lineages and organs. The rs7903146 <a href="https://en.wikipedia.org...

To read the full abstract: Int Health 2018; 10(2):100-107This article addresses the important issue of acceptance of the congenital screening for congenital hypothyroidism (CH) by the population in general and the families in particular. While it is usually obvious for the health professional that screening for CH is beneficial to the potentially affected neonate, culture, level of education, ...

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...