Abstract Search

ey0018.2-10 | Neonatal diabetes mellitus | ESPEYB18

2.10. NKX2-2 mutation causes congenital diabetes and infantile obesity with paradoxical glucose-induced ghrelin secretion.

A Auerbach , A Cohen , N Ofek Shlomai , A Weinberg-Shukron , S Gulsuner , MC King , R Hemi , E Levy-Lahad , A Abulibdeh , D Zangen

J Clin Endocrinol Metab. 2020 Nov 1;105(11):dgaa563. doi: 10.1210/clinem/dgaa563. PMID: 32818257.This manuscript describes an unusual case of a baby born with a homozygous Nkx2.2 mutation who developed severe neonatal diabetes mellitus and then on follow up went onto develop severe obesity characterized by marked hyperphagia.Nkx2.2 is an important transcription factor...

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ey0018.6-4 | Basic and Genetic Research of DSD | ESPEYB18

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

H Mandel , N Cohen Kfir , A Fedida , E Shuster Biton , M Odeh , L Kalfon , S Ben- Harouch , V Fleischer Sheffer , Y Hoffman , Y Goldberg , A Dinwiddie , E Dumin , A Eran , L Apel-Sarid , D Tiosano , TC Falik-Zaccai

Clin Genet. 2020 Oct;98(4):402407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...

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ey0016.4-11 | New Mechanisms | ESPEYB16

4.11. Late-life targeting of the IGF-1 receptor improves healthspan and lifespan in female mice

K Mao , GF Quipildor , T Tabrizian , A Novaj , F Guan , RO Walters , F Delahaye , GB Hubbard , Y Ikeno , K Ejima , P Li , DB Allison , H Salimi-Moosavi , PJ Beltran , P Cohen , N Barzilai , DM Huffman

To read the full abstract: Nat Commun. 2018 19;9:2394.Somatopause causes the physiological decline over time in GH secretion leading to low IGF-I levels in aging subjects. GH has been proposed as an anti-aging therapy, but with no evidence of beneficial effects and with some potential risks [1,2]. Therefore, current guidelines do not recommend GH therapy as anti-aging treatme...

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ey0016.10-20 | (1) | ESPEYB16

10.20. Reduced burden of diabetes and improved quality of life: Experiences from unrestricted day-and-night hybrid closed-loop use in very young children with type 1 diabetes

G Musolino , K Dovc , CK Boughton , M Tauschmann , JM Allen , Nagl , M Fritsch , J Yong , E Metcalfe , D Schaeffer , M Fichelle , U Schierloh , AG Thiele , D Abt , H Kojzar , JK Mader , S Slegtenhorst , N Ashcroft , ME Wilinska , J Sibayan , N Cohen , C Kollman , SE Hofer , E Frohlich-Reiterer , TM Kapellen , CL Acerini , C de Beaufort , F Campbell , B Rami-Merhar , R Hovorka , Kidsap Consortium

Pediatr Diabetes. 2019 May 29. doi: 10.1111/pedi.12872. [Epub ahead of print]There might be many benefits arising from the artificial pancreas and other new technologies to deliver insulin and measure glucose levels. Whether or not such technological advances will improve the lives of children and families needs to be answered.This study surveyed the experiences of parent...

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ESPE Yearbook of Paediatric Endocrinology

2.10. NKX2-2 mutation causes congenital diabetes and infantile obesity with paradoxical glucose-induced ghrelin secretion.

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

4.11. Late-life targeting of the IGF-1 receptor improves healthspan and lifespan in female mice

10.20. Reduced burden of diabetes and improved quality of life: Experiences from unrestricted day-and-night hybrid closed-loop use in very young children with type 1 diabetes

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