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ey0016.11-11 | Brown Adipose Tissue: The Story Goes On | ESPEYB16

11.11. Identification of metabolically distinct adipocyte progenitor cells in human adipose tissues

A Raajendiran , G Ooi , J Bayliss , PE O'Brien , RB Schittenhelm , AK Clark , RA Taylor , MS Rodeheffer , PR Burton , MJ Watt

To read the full abstract: Cell Rep 2019; 27(5): 152840These authors used FACS cell sorting, gene expression profiling, and metabolic and proteomic analyses to identify three distinct adipocyte progenitor cell (APCs) subtypes that reside in human white adipose tissues. Although they retain comparable differentiation capacity, they have different molecular profiles and give rise to ...

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ey0016.11-12 | Treatment of Severe Obesity: Next Steps | ESPEYB16

11.12. Patients with obesity caused by melanocortin-4 receptor mutations can be treated with a glucagon-like peptide-1 receptor agonist

EW Iepsen , J Zhang , HS Thomsen , EL Hansen , M Hollensted , S Madsbad , T Hansen , JJ Holst , JC Holm , SS Torekov

To read the full abstract: Cell Metabolism 2018; 28: 2332Pathogenic mutations in the melanocortin-4 receptor gene (MC4R) are the most common cause of monogenic obesity. However, very limited treatment options exist. Therefore, these authors investigated a glucagon-like peptide-1 receptor agonist (GLP-1 RA) as a treatment option for these patients. The findings are of major signific...

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ey0015.2-3 | Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism | ESPEYB15

Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism

ME Vajravelu , J Chai , B Krock , S Baker , D Langdon , C Alter , DD De León

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

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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...

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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...

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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...

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ey0015.5-14 | Of poodles and danes | ESPEYB15

5.14 Growth plate expression profiling: Large and small breed dogs provide new insights in endochondral bone formation

M Teunissen , FM Riemers , D van Leenen , MJA Groot Koerkamp , BP Meij , J Alblas , LC Penning , A Miranda-Bedate , MA Tryfonidou

To read the full abstract: J Orthop Res 2018;36:138-148Dogs are growth biologists’ best friends – due to the broad intra-species variance in body size, canine breeds offer a unique opportunity to study genetic differences mainly affecting linear growth. In their previous publication, the authors found drastic differences between miniature and large dog breeds in known key regulators of th...

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ey0015.6-13 | Disorders of Sex Development: New paradigm | ESPEYB15

6.13 A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

Y Naasse , A Bakhchane , H Charoute , F Jennane , J Bignon-Topalovic , A Malki , A Bashamboo , A Barakat , H Rouba , K McElreavey

To read the full abstract: Sex Dev. 2017;11(5-6):269-274[Comments on 6.11, 6.12 and 6.13] Evidence for factors necessary for female sexual development are presented in the above 3 publications. Studies of 46,XX DSD individuals show compiling evidence for factors necessary for female development and to counteract...

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ey0015.10-7 | Continuous glucose monitoring, insulin pumps and artificial pancreas | ESPEYB15

10.7 Closed-loop control during intense prolonged outdoor exercise in adolescents with T1DM: the artificial pancreas ski study

MD Breton , DR Cherñavvsky , GP Forlenza , MD DeBoer , J Robic , RP Wadwa , LH Messer , BP Kovatchev , DM Maahs

To read the full abstract: Diabetes Care. 2017;40:1644-1650Exercise is thought to lead to more stable metabolic control but may also be associated with an increased risk of hypoglycemia. The selection of sport disciplines does not differ between youngsters with diabetes and their healthy siblings. Also, patients with diabetes are not restricted in respect to their sporting activities but seem to enga...

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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 ...

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ESPE Yearbook of Paediatric Endocrinology

11.11. Identification of metabolically distinct adipocyte progenitor cells in human adipose tissues

11.12. Patients with obesity caused by melanocortin-4 receptor mutations can be treated with a glucagon-like peptide-1 receptor agonist

Mutations in the FOXA2 gene link beta cell dysfunction with Hypopituitarism

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

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

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

5.14 Growth plate expression profiling: Large and small breed dogs provide new insights in endochondral bone formation

6.13 A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

10.7 Closed-loop control during intense prolonged outdoor exercise in adolescents with T1DM: the artificial pancreas ski study

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

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