ISSN 1662-4009 (online)

ey0019.15-4 | Diabetes | ESPEYB19

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

A Wesolowska-Andersen , CA Brorsson , R Bizzotto , A Mari , A Tura , R Koivula , A Mahajan , A Vinuela , JF Tajes , S Sharma , M Haid , C Prehn , A Artati , MG Hong , PB Musholt , A Kurbasic , F De Masi , K Tsirigos , HK Pedersen , V Gudmundsdottir , CE Thomas , K Banasik , C Jennison , A Jones , G Kennedy , J Bell , L Thomas , G Frost , H Thomsen , K Allin , TH Hansen , H Vestergaard , T Hansen , F Rutters , P Elders , L t'Hart , A Bonnefond , M Canouil , S Brage , T Kokkola , A Heggie , D McEvoy , A Hattersley , T McDonald , H Teare , M Ridderstrale , M Walker , I Forgie , GN Giordano , P Froguel , I Pavo , H Ruetten , O Pedersen , E Dermitzakis , PW Franks , JM Schwenk , J Adamski , E Pearson , MI McCarthy , S Brunak , Consortium ID

Cell Rep Med. 2022;3(1):100477. doi: 10.1016/j.xcrm.2021.100477. PubMed ID: 35106505Brief summary: To explore clinical heterogeneity, this study analyzed baseline visit data on 726 adults with newly diagnosed Type 2 diabetes (T2D) adults and identified in 4 distinct profiles (clusters of phenotypes), which predicted differences in subsequent disease progression and anti-diabetic treatments...

ey0015.2-1 | A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys | ESPEYB15

A novel disorder of hyperinsulinaemic hypoglycaemia and polycystic kidneys

OR Cabezas , SE Flanagan , H Stanescu , E García-Martínez , R Caswell , H Lango-Allen , M Antón-Gamero , J Argente , AM Bussell , A Brandli , C Cheshire , E Crowne , S Dumitriu , R Drynda , JP Hamilton-Shield , W Hayes , A Hofherr , D Iancu , N Issler , C Jefferies , P Jones , M Johnson , A Kesselheim , E Klootwijk , M Koettgen , W Lewis , JM Martos , M Mozere , J Norman , V Patel , A Parrish , C Pérez-Cerdá , J Pozo , SA Rahman , N Sebire , M Tekman , PD Turnpenny , WV Hoff , DHHM Viering , MN Weedon , P Wilson , L Guay-Woodford , R Kleta , K Hussain , S Ellard , D Bockenhauer

To read the full abstract: J Am Soc Nephrol. 2017 Aug;28(8):2529-2539The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families and found that all patients had a combination HH and polycystic kidneys. The HH was mild and some patients required diazoxide therapy. In contrast the poly...

ey0015.2-2 | International consensus on Beckwith-Wiedemann Syndrome | ESPEYB15

International consensus on Beckwith-Wiedemann Syndrome

F Brioude , JM Kalish , A Mussa , AC Foster , J Bliek , GB Ferrero , SE Boonen , T Cole , R Baker , M Bertoletti , G Cocchi , C Coze , M De Pellegrin , K Hussain , A Ibrahim , MD Kilby , M Krajewska-Walasek , CP Kratz , EJ Ladusans , P Lapunzina , Y Le Bouc , SM Maas , F Macdonald , K Õunap , L Peruzzi , S Rossignol , S Russo , C Shipster , A Skórka , Tatton-Brown , J Tenorio , C Tortora , K Grønskov , I Netchine , RC Hennekam , D Prawitt , Z Tümer , T Eggermann , DJG Mackay , A Riccio , ER Maher

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplas...

ey0020.4-10 | Gender Incongruence (GI): New Guidance | ESPEYB20

4.10. Standards of Care for the Health of Transgender and Gender Diverse People, Version 8

E Coleman , AE Radix , WP Bouman , GR Brown , ALC de Vries , MB Deutsch , R Ettner , L Fraser , M Goodman , J Green , AB Hancock , TW Johnson , DH Karasic , GA Knudson , SF Leibowitz , HFL Meyer-Bahlburg , SJ Monstrey , J Motmans , L Nahata , TO Nieder , SL Reisner , C Richards , LS Schechter , V Tangpricha , AC Tishelman , MAA Van Trotsenburg , S Winter , K Ducheny , NJ Adams , TM Adrian , LR Allen , D Azul , H Bagga , K Başar , DS Bathory , JJ Belinky , DR Berg , JU Berli , RO Bluebond-Langner , MB Bouman , ML Bowers , PJ Brassard , J Byrne , L Capitan , CJ Cargill , JM Carswell , SC Chang , G Chelvakumar , T Corneil , KB Dalke , G De Cuypere , E de Vries , M Den Heijer , AH Devor , C Dhejne , A D'Marco , EK Edmiston , L Edwards-Leeper , R Ehrbar , D Ehrensaft , J Eisfeld , E Elaut , L Erickson-Schroth , JL Feldman , AD Fisher , MM Garcia , L Gijs , SE Green , BP Hall , TLD Hardy , MS Irwig , LA Jacobs , AC Janssen , K Johnson , DT Klink , BPC Kreukels , LE Kuper , EJ Kvach , MA Malouf , R Massey , T Mazur , C McLachlan , SD Morrison , SW Mosser , PM Neira , U Nygren , JM Oates , J Obedin-Maliver , G Pagkalos , J Patton , N Phanuphak , K Rachlin , T Reed , GN Rider , J Ristori , S Robbins-Cherry , SA Roberts , KA Rodriguez-Wallberg , SM Rosenthal , K Sabir , JD Safer , AI Scheim , LJ Seal , TJ Sehoole , K Spencer , C St Amand , TD Steensma , JF Strang , GB Taylor , K Tilleman , GG T'Sjoen , LN Vala , NM Van Mello , JF Veale , JA Vencill , B Vincent , LM Wesp , MA West , J Arcelus

Brief summary: The World Professional Association for Transgender Health (WPATH) has issued an updated Standards of Care version 8 which contains important guidelines on how the assessment of gender variant children and adolescents should be considered, and by whom, and provides guidance around the consideration of young people for hormonal intervention.This long and detailed document has had considerable input from many experts involved in transgender c...

ey0018.2-2 | Neonatal hypoglycaemia | ESPEYB18

2.2. Accuracy of continuous glucose monitoring in preterm infants: a systematic review and meta-analysis.

C Nava , A Modiano Hedenmalm , F Borys , L Hooft , M Bruschettini , K Jenniskens

BMJ Open. 2020 Dec 24;10(12):e045335. doi: 10.1136/bmjopen-2020-045335. PMID: 33361084This BMJ review aimed to assess the accuracy of CGM devices to detect hypoglycaemia and hyperglycaemia in preterm infants. The key take home messages from the BMJ review were that the sensitivity for CGM devices to diagnose and detect hypoglycaemia in preterm infants was poor but the specificity was h...

ey0015.3-12 | Pediatric thyroid cancer | ESPEYB15

3.12 Thyroid nodules in pediatric patients: sonographic characteristics and likelihood of cancer

DM Richman , CB Benson , PM Doubilet , HE Peters , SA Huang , E Asch , AJ Wassner , JR Smith , CE Cherella , MC Frates

To read the full abstract: Radiology 2018:171170Current American Thyroid Association (ATA) guidelines recommend the application of adult ultrasound criteria to classify thyroid nodules in children and adolescents1. However, few studies have evaluated the sonographic and demographic features that could predict malignancy in a large cohort of young patients with thyroid nodules.</p...

ey0015.7-1 | New concept: Epigenetic control of puberty | ESPEYB15

7.1 Trithorax dependent changes in chromatin landscape at enhancer and promoter regions drive female puberty

CA Toro , H Wright , CF Aylwin , SR Ojeda , A Lomniczi

To read the full abstract: Nat Commun. 2018 Jan 4;9(1):57The hypothalamic-pituitary-gonadal axis controls the onset of puberty and the acquisition of the reproductive function. A subset of neurons in the anterior hypothalamus secretes gonadotropin-releasing hormone (GnRH) which, through its pattern of release controls all aspects of reproduction throughout life. The secretory activity of GnR...

ey0020.1-13 | Pediatric Thyroid Cancer | ESPEYB20

1.13. 2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma

CA Lebbink , TP Links , A Czarniecka , RP Dias , R Elisei , L Izatt , H Krude , K Lorenz , M Luster , K Newbold , A Piccardo , M Sobrinho-Simoes , T Takano , AS Paul van Trotsenburg , FA Verburg , HM van Santen

Brief summary: American Thyroid Association Guidelines for management of children with thyroid nodules and differentiated thyroid cancer were published in 2015 (1). Now Lebbink et al. published management guidelines from the European Thyroid Association.Pediatric differentiated thyroid carcinoma is rare. For many aspects of the disease (diagnosis, treatment, follow-up) clear evidence from randomized controlled trials are therefore missing. The p...

ey0016.7-1 | Basic Science | ESPEYB16

7.1. PACAP neurons in the ventral premammillary nucleus regulate reproductive function in the female mouse

RA Ross , S Leon , JC Madara , D Schafer , C Fergani , CA Maguire , AM Verstegen , E Brengle , D Kong , AE Herbison , UB Kaiser , BB Lowell , VM Navarro

To read the full abstract: Elife. 2018 Jun 15;7. pii: e35960.Using transgenic mice, this team discover a new role for Pituitary adenylate cyclase activating polypeptide (PACAP) in female puberty and reproduction. This neuropeptide relays nutritional state information in the hypothalamus to regulate gonadotropin-releasing hormone release.Metabolic cues play...

ey0019.3-14 | Paediatric thyroid cancer | ESPEYB19

3.14. Fusion oncogenes are associated with increased metastatic capacity and persistent disease in pediatric thyroid cancers

AT Franco , JC Ricarte-Filho , A Isaza , Z Jones , N Jain , S Mostoufi-Moab , L Surrey , TW Laetsch , MM Li , JC DeHart , E Reichenberger , D Taylor , K Kazahaya , NS Adzick , AJ Bauer

J Clin Oncol. 2022 Apr 1;40(10):1081-1090. doi: 10.1200/JCO.21.01861. Epub 2022 Jan 11. PMID: 35015563Brief Summary: This retrospective monocenter study of clinical, pathological and molecular analysis of n=113 children with differentiated thyroid cancer (DTC) showed that genetic analysis of DTC provided more accurate information on prognosis and outcome than classical histological categorizatio...