ISSN 1662-4009 (online)

ey0015.2-10 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

2.10 Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

S Moortgat , J Désir , V Benoit , S Boulanger , H Pendeville , MC Nassogne , D Lederer , I Maystadt

To read the full abstract: Am J Med Genet A. 2016 Nov;170(11):2927-2933The vast majority of proteins that a cell secretes or displays on its surface first enter the endoplasmic reticulum (ER), where they fold and assemble. Only properly assembled proteins advance from the ER to the cell surface. The ER coordinates protein biosynthetic and secretory activities in the cell. Alterations in ER homeost...

ey0015.14-5 | Gut flora is shaped by the environment | ESPEYB15

14.5 Environment dominates over host genetics in shaping human gut microbiota

D Rothschild , O Weissbrod , E Barkan , A Kurilshikov , T Korem , D Zeevi , PI Costea , A Godneva , IN Kalka , N Bar

To read the full abstract: Nature 2018;555:210Up to now, it was thought that genetics would play a major role in shaping the gut flora. However, this study, in a cohort of 1,046 healthy Israeli individuals with a well-defined clinical phenotype, suggests that only 2-8% of human microbiome variability is explained by genetics, as compared to 92-98% explained by environmental influences. This...

ey0020.4-11 | Psychological Effects of Hormone Treatments | ESPEYB20

4.11. Psychosocial functioning in transgender youth after 2 years of hormones

D Chen , J Berona , YM Chan , D Ehrensaft , R Garofalo , MA Hidalgo , SM Rosenthal , AC Tishelman , J Olson-Kennedy

Brief summary: A four centre prospective longitudinal study of 315 transgender and non-binary adolescents in the USA showed improvement in gender congruence and appearance and some reduction of depression and anxiety (but not in birth-registered males) after 2 years of gender affirming hormone (GAH) treatment.The race is on to provide clear evidence to support hormonal intervention for transgender adolescents. This longitudinal study employed a number of...

ey0020.10-13 | Dyslipidemia | ESPEYB20

10.13. Association between autism spectrum disorders and cardiometabolic diseases: a systematic review and meta-analysis

CS Dhanasekara , D Ancona , L Cortes , A Hu , AH Rimu , C Robohm-Leavitt , D Payne , SM Wakefield , AM Mastergeorge , CN Kahathuduwa

Brief summary: This meta-analysis examined the association of autism spectrum disorders (ASD) with cardiometabolic diseases. The study included 276 173 individuals with autism and found a 69.4% higher relative risk of dyslipidemia, indicating higher risks of heart disease and stroke. The risk of type 2 diabetes mellitus (T2D) was 247% higher in individuals with autism, and the risk of type 1 diabetes mellitus (T1D) was 64% higher. Genetic factors, obesity, and autoimmune disea...

ey0016.5-12 | Clinical Guidance | ESPEYB16

5.12. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

D Haffner , F Emma , DM Eastwood , MB Duplan , J Bacchetta , D Schnabel , P Wicart , D Bockenhauer , F Santos , E Levtchenko , P Harvengt , M Kirchhoff , F Di Rocco , C Chaussain , ML Brandi , L Savendahl , K Briot , P Kamenicky , L Rejnmark , A Linglart

Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [PMID: 31068690].Abstract: www.ncbi.nlm.nih.gov/pubmed/?termZ31068690In brief: In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medi...

ey0018.4-9 | New Perspectives | ESPEYB18

4.9. Prospective longitudinal assessment of linear growth and adult height in female adolescents with anorexia nervosa

D Modan-Moses , A Yaroslavsky , O Pinhas-Hamiel , Y Levy-Shraga , B Kochavi , S Iron-Segev , A Enoch-Levy , A Toledano , D Daniel Stein

J Clin Endocrinol Metab. 2021;106(1):e1–e10. doi: 10.1210/clinem/dgaa510. PMID: 32816013This prospective observational study on a cohort of 255 adolescents with anorexia nervosa (AN) aimed to investigate the effects of nutritional restriction on linear growth and adult height. Whereas premorbid height did not differ from reference standards, girls with AN showed a mild but significantl...

ey0019.7-13 | Basic Science | ESPEYB19

7.13. Multi- and transgenerational outcomes of an exposure to a mixture of endocrine-disrupting chemicals (EDCs) on puberty and maternal behavior in the female rat

D Lopez-Rodriguez , CF Aylwin , V Delli , E Sevrin , M Campanile , M Martin , D Franssen , A Gerard , S Blacher , E Tirelli , A Noel , A Lomniczi , AS Parent

Environ Health Perspect.2021 Aug;129(8):87003. doi: 10.1289/EHP8795. Epub 2021 Aug 12. PMID: 34383603. https://ehp.niehs.nih.gov/doi/10.1289/EHP8795?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedBrief Summary: Using a rode...

ey0017.2-2 | Neonatal Hypoglycaemia | ESPEYB17

2.2. Diazoxide-induced pulmonary hypertension in hyperinsulinaemic hypoglycaemia: Recommendations from a multi-centre study in the United Kingdom

SC Chen , A Dastamani , D Pintus , D Yau , S Aftab , L Bath , C Swinburne , L Hunter , A Giardini , G Christov , S Senniappan , I Banerjee , MG Shaikh , P Shah

To read the full abstract: Clin Endocrinol (Oxf). 2019 Dec;91(6):770–775. PMID: 31520536Diazoxide is the first line treatment for patients with hyperinsulinaemic hypoglycaemia (HH). The vast majority of patients tolerate diazoxide well without any major complications. However, diazoxide is known to cause several side effects including hypertrichosis, neutropaenia, thrombocytop...

ey0017.13-3 | Advocacy, History and Society | ESPEYB17

13.3. Effective coverage measurement in maternal, newborn, child, and adolescent health and nutrition: Progress, future prospects, and implications for quality health systems

AD Marsh , M Muzigaba , T Diaz , J Requejo , D Jackson , D Chou , J Cresswell A , R Guthold , A Moran C , K Strong L , A Banerjee , A Soucat

To read the full abstract: Lancet Glob Health 2020; 8: e730–36. doi: 10.1016/S2214-109X(20)30104-2• Sustainable Development Goals (SDG) were adopted by United Nations Member States in 2015. Universal health coverage is at the centre of SDG #3 but lacks metrics that make it possible to assess how effective the provided healthcare is.• WHO and UNICEF convened a group of ...