ISSN 1662-4009 (online)

ey0016.10-11 | (1) | ESPEYB16

10.11. Changes in diabetes medication regimens and glycemic control in adolescents and young adults with youth-onset type 2 diabetes: The SEARCH for diabetes in youth study

CA Pinto , JM Stafford , T Wang , RR Shankar , JM Lawrence , G Kim , C Pihoker , RB Jr D'Agostino , D Dabelea

Pediatr Diabetes. 2018 May 15. doi: 10.1111/pedi.12691There is a small but significant debate as to whether or not type 1 (T1D) and type 2 diabetes (T2D) are the same disease with albeit different course. It might therefore be prudent to include into a chapter on T1D a publication on T2D. This study aimed to describe recent medication patterns and changes in medication patterns and glycemic con...

ey0016.13-15 | Growth and Nutrition | ESPEYB16

13.15. The obesity transition: stages of the global epidemic

LM Jaacks , S Vandevijvere , A Pan , CJ McGowan , C Wallace , F Imamura , D Mozaffarian , B Swinburn , M Ezzati

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...

ey0015.2-4 | Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism | ESPEYB15

2.4 Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities

D Giri , ML Vignola , A Gualtieri , V Scagliotti , P McNamara , M Peak , M Didi , C Gaston-Massuet , S Senniappan

To read the full abstract: Hum Mol Genet. 2017 Nov 15;26(22):4315-4326These two papers describe the association of heterozygous FOXA2 mutations with hypopituitarism and hyperinsulinism. The forkhead/winged helix transcription factor Foxa2 is a major upstream regulator of Pdx1, a transcription factor necessary for pancreatic development and also plays a role in the developmental biology of the pituit...

ey0015.4-1 | Important for clinical practice | ESPEYB15

4.1 Growth hormone treatment in children with Prader-Willi syndrome: three years of longitudinal data in prepubertal children and adult height data from the KIGS database

NE Bakker , A Lindberg , J Heissler , HA Wollmann , C Camacho-Hübner , AC Hokken-Koelega , on behalf of the KIGS Steering Committee

To read the full abstract: J Clin Endocrinol Metab 2017; 102:1702-1711Short stature is a common feature of children with Prader-Willi syndrome (PWS) as well as hypotonia, hyperphagia, obesity, hypogonadism, behavioral disturbances and hypothalamic dysfunction. Alterations in the GH/IGF1 axis are common in patients with PWS, GH deficiency occurring in approximately 74% and IGF-1...

ey0015.4-5 | Important for clinical practice | ESPEYB15

4.5 Growth hormone improves cardiopulmonary capacity and body composition in children with growth hormone deficiency

D Capalbo , F Barbieri , N Improda , F Giallauria , E Di Pietro , A Rapacciuolo , R Di Mase , C Vigorito , M Salerno

To read the full abstract: J Clin Endocrinol Metab 2017; 102(11):4080-4088GH influences the structure and function of the heart. Untreated GHD adults have a worse cardiometabolic disease risk profile characterized by altered body composition, unfavorable changes in metabolism, reduced left ventricular mass and cardiac output and decreased exercise capacity [25-26]. GH...

ey0015.5-5 | New genes and gene mutations | ESPEYB15

5.5 Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

C Tatsi , A Gkourogianni , K Mohnike , D DeArment , S Witchel , AC Andrade , TC Markello , J Baron , O Nilsson , YH Jee

To read the full abstract: J Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...

ey0015.7-8 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella , SR Howard , JS Acierno , C Xu , GE Papadakis , FA Santoni , AA Dwyer , S Santini , GP Sykiotis , C Chambion , J Meylan , L Marino , L Favre , J Li , X Liu , J Zhang , PM Bouloux , C Geyter , A Paepe , WS Dhillo , JM Ferrara , M Hauschild , M Lang-Muritano , JR Lemke , C Flück , A Nemeth , F Phan-Hug , D Pignatelli , V Popovic , S Pekic , R Quinton , G Szinnai , D l'Allemand , D Konrad , S Sharif , ÖT Iyidir , BJ Stevenson , H Yang , L Dunkel , N Pitteloud

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...

ey0015.10-2 | Aetiology and heterogeneity of type 1 diabetes | ESPEYB15

10.2 Higher parental occupational social contact is associated with a reduced risk of incident pediatric T1DM: mediation through molecular enteroviral indices

AL Ponsonby , A Pezic , FJ Cameron , C Rodda , AS Kemp , JB Carlin , H Hyoty , A Sioofy-Khojine , T Dwyer , JA Ellis , ME Craig

To read the full abstract: PLoS One. 2018;13:e0193992Enterovirus infections in children are associated with an almost 10-fold higher risk of T1DM. In these families in parents and siblings enterovirus can frequently be detected by PCR. However, the role of enteroviral infections in the pathogenesis of T1DM is complex. Although enterovirus infections are less prevalent T1DM incidence increa...

ey0015.10-8 | Continuous glucose monitoring, insulin pumps and artificial pancreas | ESPEYB15

10.8 Association of insulin pump therapy vs insulin injection therapy with severe hypoglycemia, ketoacidosis, and glycemic control among children, adolescents, and young adults with T1DM

B Karges , A Schwandt , B Heidtmann , O Kordonouri , E Binder , U Schierloh , C Boettcher , T Kapellen , J Rosenbauer , RW Holl

To read the full abstract: JAMA. 2017;318:1358-1366Here, the authors compared the metabolic control in young patients with T1DM with insulin pump therapies versus multiple injection treatment modalities using the data from 30 579 patients younger than 20 years of age of 446 centers in a prospective population-based cohort study. While it is very clear that pump therapy, compared with injection ...