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ey0018.6-2 | Basic and Genetic Research of DSD | ESPEYB18

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

C Eozenou , N Gonen , MS Touzon , A Jorgensen , SA Yatsenko , L Fusee , AK Kamel , B Gellen , G Guercio , P Singh , S Witchel , AJ Berman , R Mainpal , M Totonchi , A Mohseni Meybodi , M Askari , T Merel-Chali , J Bignon-Topalovic , R Migale , M Costanzo , R Marino , P Ramirez

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):1368013688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...

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ey0018.9-6 | Surveillance strategies of endocrine complications | ESPEYB18

9.6. Female reproductive function after treatment of childhood acute lymphoblastic leukemia

R Roshandel , M van Dijk , A Overbeek , G Kaspers , C Lambalk , C Beerendonk , D Bresters , M van der Heiden-van der Loo , M van den Heuvel-Eibrink , L Kremer , J Loonen , H van der Pal , C Ronckers , W Tissing , B Versluys , F van Leeuwen , M van den Berg , E van Dulmen-den Broeder

Pediatr Blood Cancer. 2021; 68: e28894. https://pubmed.ncbi.nlm.nih.gov/33459500/This cross-sectional observational study examined reproductive function in a nationwide cohort of female childhood acute lymphoblastic leukemia (ALL) survivors.Self-reported reproductive characteristics (age at menarche, virginity status, desire for children, pregnancy rates, and adverse ...

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ey0019.1-7 | Genetics | ESPEYB19

1.7. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

L Akin , K Rizzoti , LC Gregory , B Corredor , Quesne Stabej P Le , H Williams , F Buonocore , S Mouilleron , V Capra , SM McGlacken-Byrne , GA Martos-Moreno , DN Azmanov , M Kendirci , S Kurtoglu , JP Suntharalingham , C Galichet , S Gustincich , V Tasic , JC Achermann , A Accogli , A Filipovska , A Tuilpakov , M Maghnie , Z Gucev , ZB Gonen , LA Perez-Jurado , I Robinson , R Lovell-Badge , J Argente , MT Dattani

Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. PMID: 34906446.Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants to cover primary ovarian insufficiency (POI) in combination with the previously associated growth hormone deficiency (GHD).The authors report 15 patients from 9 pedigrees with severe...

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ey0019.5-1 | Novel treatments for rare skeletal disorders | ESPEYB19

5.1. Targeting TGF-β for treatment of osteogenesis imperfecta

IW Song , SC Nagamani , D Nguyen , I Grafe , VR Sutton , FH Gannon , E Munivez , MM Jiang , A Tran , M Wallace , P Esposito , S Musaad , E Strudthoff , S McGuire , M Thornton , V Shenava , S Rosenfeld , S Huang , R Shypailo , E Orwoll , B Lee

J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/35113812/In brief: Currently, there is no disease-specific therapy for osteogenesis imperfecta (OI) where most children, of all forms of OI, with significant fracture history, are managed by bisphosphonates...

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ey0019.6-5 | Basic and Genetic Research of DSD | ESPEYB19

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

D Cicek , N Warr , G Yesil , Eker H Kocak , F Bas , S Poyrazoglu , F Darendeliler , G Direk , N Hatipoglu , M Eltan , Abali Z Yavas , Tosun B Gurpinar , SB Kaygusuz , Menevse T Seven , D Helvacioglu , S Turan , A Bereket , R Reeves , M Simon , M Mackenzie , L Teboul , A Greenfield , T Guran

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 19 cases per 100,000 live-births. GD can be classified as either complete...

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ey0019.10-3 | Clinical Trials | ESPEYB19

10.3. Randomized trial of closed-loop control in very young children with type 1 diabetes

J Ware , JM Allen , CK Boughton , ME Wilinska , S Hartnell , A Thankamony , Beaufort C de , U Schierloh , E Frohlich-Reiterer , JK Mader , TM Kapellen , B Rami-Merhar , M Tauschmann , K Nagl , SE Hofer , FM Campbell , J Yong , KK Hood , J Lawton , S Roze , J Sibayan , J Bocchino , C Kollman , R Hovorka , Consortium KidsAP

N Engl J Med. 2022 Jan 20;386(3):209-219. https://pubmed.ncbi.nlm.nih.gov/35045227/Brief Summary: This multicenter, randomized, crossover trial in 74 very young children (age: 1-7 years) with type 1 diabetes (T1D) tested the safety and efficacy of a hybrid closed-loop system for insulin delivery (CamAPS FX) compared with sensor-augmented pump therapy over 16 weeks. The hybrid closed-loop sy...

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ey0019.10-9 | Advances in clinical practice | ESPEYB19

10.9. Comparison of insulin dose adjustments made by artificial intelligence based decision support system and by physicians in people with type 1 diabetes using multiple daily injections therapy

R Nimri , A Tirosh , I Muller , Y Shtrit , I Kraljević , MM Alonso , T Milicic , B Saboo , A Deeb , A Christoforidis , Brinker M den , L Bozzetto , AM Bolla , M Krcma , RA Rabini , S Tabba , A Vazeou-Gerasimidi , G Maltoni , E Giani , I Dotan , IF Liberty , Y Toledano , O Kordonouri , N Bratina , K Dovc , T Biester , E Atlas , M Phillip

Diabetes Technol Ther. 2022;24:564-572. doi: https://pubmed.ncbi.nlm.nih.gov/35325567/Brief Summary: This physician survey-based study compared insulin dose recommendations between an artificial intelligence-based decision support system (ED-DSS) and 20 experienced physicians from 11 countries. Using data from 17 individuals with type 1 diabetes (T1D) treated with multiple daily insulin inj...

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ey0019.14-7 | Steroidogenesis and beyond | ESPEYB19

14.7. Placental uptake and metabolism of 25(OH)vitamin D determine its activity within the fetoplacental unit

B Ashley , C Simner , A Manousopoulou , C Jenkinson , F Hey , JM Frost , FI Rezwan , CH White , EM Lofthouse , E Hyde , LDF Cooke , S Barton , P Mahon , EM Curtis , RJ Moon , SR Crozier , HM Inskip , KM Godfrey , JW Holloway , C Cooper , KS Jones , RM Lewis , M Hewison , SDD Garbis , MR Branco , NC Harvey , JK Cleal

eLife 2022;11:e71094 doi: 10.7554/eLife.71094Brief summary: Using placental perfusion, placental fragment culture and primary term human cytotrophoblast culture experiments, the authors signify the relationship between maternal vitamin D, placental vitamin D metabolism and fetal vitamin D exposure.In this study, the uptake of radio-labelled vitamin D (13C-25(OH)D...

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ey0017.2-9 | Neonatal Diabetes Mellitus | ESPEYB17

2.9. Long-term metabolic and socio educational outcomes of transient neonatal diabetes: A longitudinal and cross-sectional study

F Le Bourgeois , Baz B Beltrand J , Riveline JP Julla JB , A Simon , I Flechtner , M Ait Djoudi , AL Fauret-Amsellem , Y Vial , R Scharfmann , J Sommet , P Boudou , H Cave , M Polak , JF Gautier , KTNDM Long-Term Follow-Up Study Group Busiah

To read the full abstract: Diabetes Care. 2020 Apr 9. pii: dc190324. doi: 10.2337/dc19-0324. [Epub ahead of print]. PMID: 32273272TransientNeonatalDiabetes (TNDM) develops in the first six months of life, and then remits only to relapse again during adolescence and adulthood. The three main genetic causes of TNDM are: 1) 6q24 abnormalities, 2) activating mutations in genes encoding the ATP-sensi...

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ey0017.2-11 | Updates on the Genetics of Neonatal Diabetes Mellitus, Congenital Hyperinsulinism and Glucose Disorders | ESPEYB17

2.11. Update of variants identified in the pancreatic [beta]-cell K_ATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

E De Franco , C Saint-Martin , K Brusgaard , AE Knight Johnson , L Aguilar-Bryan , P Bowman , JB Arnoux , AR Larsen , S May , Saw Greeley , R Calzada-Leon , B Harman , JAL Houghton , Nishimura-Meguro , TW Laver , S Ellard , D Del Gaudio , HT Christesen , C Bellanne-Chantelot , SE Flanagan

To read the full abstract: Hum Mutat. 2020 May;41(5):884905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. PMID: 32027066Pancreatic KATPchannels play a key role in regulating insulin secretion. These channels are composed of four subunits of SUR1 and four subunits of KIR6.2 encoded by the ABCC8 and KNCJ11 genes, respectively. Inactivating mutations in these two g...

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ESPE Yearbook of Paediatric Endocrinology

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

9.6. Female reproductive function after treatment of childhood acute lymphoblastic leukemia

1.7. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

5.1. Targeting TGF-β for treatment of osteogenesis imperfecta

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

10.3. Randomized trial of closed-loop control in very young children with type 1 diabetes

10.9. Comparison of insulin dose adjustments made by artificial intelligence based decision support system and by physicians in people with type 1 diabetes using multiple daily injections therapy

14.7. Placental uptake and metabolism of 25(OH)vitamin D determine its activity within the fetoplacental unit

2.9. Long-term metabolic and socio educational outcomes of transient neonatal diabetes: A longitudinal and cross-sectional study

2.11. Update of variants identified in the pancreatic [beta]-cell K_ATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

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