ISSN 1662-4009 (online)

ey0017.10-2 | (1) | ESPEYB17

10.2. Lower incidence rate of type 1 diabetes after receipt of the rotavirus vaccine in the United States, 2001-2017

MAM Rogers , T Basu , C Kim

To read the full abstract: Sci Rep. 2019 Jun 13;9(1):7727As outlined in paper 10.1, intrauterine and early neonatal infections with a number of viruses are thought to contribute to the incidence of type 1 diabetes (T1DM) later in life. Amongst the viruses to be considered, enteroviruses have been found to be the most important. It is therefore important to know whether vaccination against enteroviruses would reduce the incidence of autoimmune di...

ey0016.13-14 | Growth and Nutrition | ESPEYB16

13.14. As tall as my peers - similarity in body height between migrants and hosts

B Bogin , Hermanussen H Michael , C Scheffler

Anthropol Anz. 2018 Jun 11;74(5):365–376. DOI: 10.1127/anthranz/2018/0828• This literature review evaluated the phenomenon of faster growth, earlier maturation and often taller adult height in migrant youth as compared to their non-migrant relatives.• The authors propose a new framework to understand growth regulation and determinants of adult heigh...

ey0020.8-6 | Important for Clinical Practice | ESPEYB20

8.6. Continuous glucose monitoring versus blood glucose monitoring for risk of severe hypoglycaemia and diabetic ketoacidosis in children, adolescents, and young adults with type 1 diabetes: a population-based study

B Karges , SR Tittel , A Bey , C Freiberg , C Klinkert , O Kordonouri , S Thiele-Schmitz , C Schroder , C Steigleder-Schweiger , RW Holl

Brief summary: In this large registry-based study, including 32 117 children and young people (aged 1.5–25 years) with type 1 diabetes (T1D), the use of continuous glucose monitoring (CGM) was associated with decreased rates of diabetic ketoacidosis (DKA) and severe hypoglycemia. Of interest, some CGM metrics predicted risk for these complications.CGM systems are now widely used by children with T1D, and there is evidence both from clinical trials a...

ey0017.7-11 | Basic Science | ESPEYB17

7.11. Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

A Messina , K Pulli , S Santini , J Acierno , J Kansakoski , D Cassatella , C Xu , F Casoni , SA Malone , G Ternier , D Conte , Y Sidis , J Tommiska , K Vaaralahti , A Dwyer , Y Gothilf , GR Merlo , F Santoni , NJ Niederlander , P Giacobini , T Raivio , N Pitteloud

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

ey0017.3-10 | New genes | ESPEYB17

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

B Rivera , J Nadaf , S Fahiminiya , M Apellaniz-Ruiz , A Saskin , AS Chong , S Sharma , R Wagener , T Revil , V Condello , Z Harra , N Hamel , N Sabbaghian , K Muchantef , C Thomas , L de Kock , MN Hebert-Blouin , AV Bassenden , H Rabenstein , O Mete , R Paschke , MP Pusztaszeri , W Paulus , A Berghuis , J Ragoussis , YE Nikiforov , R Siebert , S Albrecht , R Turcotte , M Hasselblatt , MR Fabian , WD Foulkes

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

ey0018.13-8 | Endocrinology | ESPEYB18

13.8. Analysis of the screening results for congenital adrenal hyperplasia involving 7.85 million newborns in China: a systematic review and meta-analysis

Z Li , L Huang , C Du , C Zhang , M Zhang , Y Liang , X Luo

Front Endocrinol 2021; 12:624507. doi: 10.3389/fendo.2021.624507– This systematic review identified 41 Chinese studies totalling 7,853,756 newborns who underwent neonatal CAH screening– The overall incidence of CAH in China was 1/23,024 (95% CI, 1/25,757 to 1/20,815)– Among the CAH patients, the Male:Female ratio was 1.92:1, and 76% presented with salt wasting<p class=...

ey0019.5-12 | Translational highlights | ESPEYB19

5.12. Premature growth plate closure caused by a hedgehog cancer drug is preventable by co-administration of a retinoid antagonist in mice

E Koyama , C Mundy , C Saunders , J Chung , SE Catheline , D Rux , M Iwamoto , M Pacifici

J Bone Miner Res 36, 1387–1402. (2021)Abstract: https://pubmed-ncbi-nlm-nih-gov/33724538/In brief: Premature growth plate closure under anti-hedgehog treatment is caused by impaired retinoic acid metabolism in growth plate progenitor cells. In this mouse model, administration of retinoic acid receptor blockers rescued the phenotype and normalized growth plate maturation.<p class="a...

ey0019.11-14 | Weight regulation and endocrine circuits (including interventions) | ESPEYB19

11.14. Energy balance in hypothalamic obesity in response to treatment with a once-weekly GLP-1 receptor agonist

A Shoemaker , H Silver , M Buchowski , J Slaughter , J Yanovski , C Elfers , C Roth , MJ Abuzzahab

Ashley.H.Shoemaker@VUMC.org International Journal of Obesity 2022, Epub 2022 Jan 3. doi: 10.1038/s41366-021-01043-6. https://pubmed.ncbi.nlm.nih.gov/34975146/Brief Summary: This double-blind, placebo-controlled trial assessed the efficacy of 36 weeks of GLP1RA treatment with exenatide e...

ey0017.8-11 | New Hope | ESPEYB17

8.11. Carriers of a classic CYP21A2 mutation have reduced mortality: A population-based national cohort study

A Nordenstrom , J Svensson , S Lajic , L Frisen , A Nordenskjold , C Norrby , C Almqvist , H Falhammar

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(12): 6148–6154. PMID: 31393570.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency has an incidence of 1 in 10 000 to 20 000 in most populations. It is one of the most common monogenic autosomal recessive disorders (1). It has been suggested that the condition is common because it may confe...

ey0017.10-7 | (1) | ESPEYB17

10.7. Real world hybrid closed-loop discontinuation: Predictors and perceptions of youth discontinuing the 670G system in the first 6 months

LH Messer , C Berget , T Vigers , L Pyle , C Geno , PR Wadwa , KA Driscoll , GP Forlenza

To read the full abstract: Pediatr Diabetes. 2020 Mar;21(2):319–327. doi: 10.1111/pedi.12971. Epub 2020 Jan 3. PMID: 31885123Dissatisfaction with technologies, discontinuation of use and inappropriate adjustments of insulin pump settings pose important areas of concern in adolescents using diabetes technologies. This study searched for predictors of hybrid closed loop (HCL) discontinuation...