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ey0018.7-1 | Clinical Guidance | ESPEYB18

7.1. Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty

D Helvacıoğlu , S Demircioğlu Turan , T Guran , Z Atay , A Dağcınar , D Bezen , E Karakılıc Ozturan , F Darendeliler , A Yuksel , F Dursun , S Kılınc , S Semiz , S Abalı , M Yıldız , A Onder , A Bereket

J Clin Endocrinol Metab. 2021 Mar 25:dgab190. doi: 10.1210/clinem/dgab190. PMID: 33765130. https://academic.oup.com/jcem/article-abstract/106/7/e2557/6188450?redirectedFrom=fulltextIn brief: This multicentre cohort study explores the frequency, long-term outcomes and potential p...

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ey0018.11-10 | Mechanism of the year | ESPEYB18

11.10. Intercellular mitochondria transfer to macrophages regulates white adipose tissue homeostasis and is impaired in obesity

JR Brestoff , CB Wilen , JR Moley , Y Li , W Zou , NP Malvin , MN Rowen , BT Saunders , H Ma , MR Mack , BL Hykes , DR Balce , A Orvedahl , JW Williams , N Rohatgi , X Wang , MR McAllaster , SA Handley , BS Kim , JG Doench , BH Zinselmeyer , MS Diamond , HW Virgin , AE Gelman , SL Teitelbaum

Cell Metab 2021;33(2): 270–282.e8. doi: https://doi.org/10.1016/j.cmet.2020.11.008Brestoff et al. show, for the first time, that mitochondria are transferred from adipocytes to macrophages and that this event has an impact on systemic metabolic homeostasis.Within the last years, it has been demonstrated that cells are able to communicate with each other by the exchange of organell...

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ey0018.14-4 | (1) | ESPEYB18

14.4. CRISPR-Cas9 gene editing for sickle cell disease and [beta]-thalassemia

Frangoul Haydar , Altshuler David , Cappellini M. Domenica , Chen Yi-Shan , Domm Jennifer , Eustace Brenda K , Foell Juergen , de la Fuente Josu , Grupp Stephan , Handgretinger Rupert , Ho Tony W , Kattamis Antonis , Kernytsky Andrew , Lekstrom-Himes Julie , Li Amanda M , Locatelli Franco , Mapara Markus Y , de Montalembert Mariane , Rondelli Damiano , Sharma Akshay , Sheth Sujit , Soni Sandeep , Steinberg Martin H , Wall Donna , Yen Angela , Corbacioglu Selim

N Engl J Med 2021; 384:252260 https://www.nejm.org/doi/full/10.1056/NEJMoa2031054In the Yearbook, we have been following the CRISPR story since its very beginning. Last year, Emmanuelle Charpentier and Jennifer Doudna were awarded the Nobel Prize in Chemistry for discovering the CRISPR-Cas9 gene editing tool. Here, scientists have published the first successful treatment (as...

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

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

H Zidoune , L Martinerie , DS Tan , M Askari , D Rezgoune , A Ladjouze , A Boukri , Y Benelmadani , K Sifi , N Abadi , D Satta , M Rastari , M Seresht-Ahmadi , J Bignon-Topalovic , I Mazen , J Leger , D Simon , R Brauner , M Totonchi , R Jauch , A Bashamboo , K McElreavey

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...

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ey0019.9-7 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.7. Fertility status among long-term childhood acute lymphoblastic leukaemia survivors enrolled between 1971 and 1998 in EORTC CLG studies: results of the 58 late adverse effects study

Rossi G. , Kicinski M. , Suciu S. , Vandecruys E. , Plat G. , Uyttebroeck A. , Paillard C. , Barbati M. , Dresse M.F. , Simon P. , Minckes O. , Pluchart C. , Ferster A. , Freycon C. , Millot F. , van der Werfften Bosch J. , Chantrain C. , Paulus R. , de Rojas T. , de Schaetzen G. , Rohrlich P. , Benoit Y. , Piette C.

On behalf of the European Organisation for Research and Treatment of Cancer (EORTC) Childrens Leukemia Group (CLG)caroline.piette@chuliege.be Human Reproduction, 2022; 37: 4453. PMID: 34788455.Brief Summary: This case-control study evaluated fertility status in childhood acute lymphoblastic leukaemia (ALL) survivors enrolled in the European Organisation for Research and Treatment of Ca...

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ey0019.11-3 | New findings in adipose tissue biology | ESPEYB19

11.3. Isthmin-1 is an adipokine that promotes glucose uptake and improves glucose tolerance and hepatic steatosis

Z Jiang , M Zhao , L Voilquin , Y Jung , MA Aikio , T Sahai , FY Dou , AM Roche , I Carcamo-Orive , JW Knowles , M Wabitsch , EA Appel , CL Maikawa , JP Camporez , GI Shulman , L Tsai , ED Rosen , CD Gardner , BM Spiegelman , KJ Svensson

katrinjs@stanford.edu Cell Metab 2021; 33(9): 18361852.e11http://www.ncbi.nlm.nih.gov/pubmed/34348115Brief Summary: This rodent study identified a novel adipokine in mice which triggers a signaling cascade similar to that of insulin. By acting via an unknown tyrosine kinase, isthmin-1 (ISM1) ameliorates metabolic disturbances associated wit...

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ey0019.15-10 | Assorted Conditions | ESPEYB19

15.10. Metabolomic profiling reveals extensive adrenal suppression due to inhaled corticosteroid therapy in asthma

P Kachroo , ID Stewart , RS Kelly , M Stav , K Mendez , A Dahlin , DI Soeteman , SH Chu , M Huang , M Cote , HM Knilhtila , K Lee-Sarwar , M McGeachie , A Wang , AC Wu , Y Virkud , P Zhang , NJ Wareham , EW Karlson , CE Wheelock , C Clish , ST Weiss , C Langenberg , JA Lasky-Su

Nat Med. 2022;28(4):814-22. doi: 10.1038/s41591-022-01714-5.PubMed ID: 35314841Brief summary: This study performed large-scale metabolomic profiling across 14 000 adults from 4 cohorts and identified 17 steroid metabolites whose levels were reduced in individuals with prevalent asthma. The largest reductions were associated with inhaled corticosteroid (ICS) treatment, and these were valida...

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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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ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

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ey0017.8-10 | New Hope | ESPEYB17

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

N Pode-Shakked , A Blau , B Pode-Shakked , D Tiosano , N Weintrob , O Eyal , A Zung , F Levy-Khademi , Y Tenenbaum-Rakover , D Zangen , D Gillis , O Pinhas-Hamiel , N Loewenthal , L de Vries , Z Landau , M Rachmiel , A Abu-Libdeh , A Eliakim , D Strich , I Koren , A German , J Sack , S Almashanu

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(8): 31723180. PMID: 30865229.Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17-hydroxyprogesterone (17OHP) concentrations determined in dried blood spots (1). However, the success of NBS for...

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ESPE Yearbook of Paediatric Endocrinology

7.1. Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty

11.10. Intercellular mitochondria transfer to macrophages regulates white adipose tissue homeostasis and is impaired in obesity

14.4. CRISPR-Cas9 gene editing for sickle cell disease and [beta]-thalassemia

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

9.7. Fertility status among long-term childhood acute lymphoblastic leukaemia survivors enrolled between 1971 and 1998 in EORTC CLG studies: results of the 58 late adverse effects study

11.3. Isthmin-1 is an adipokine that promotes glucose uptake and improves glucose tolerance and hepatic steatosis

15.10. Metabolomic profiling reveals extensive adrenal suppression due to inhaled corticosteroid therapy in asthma

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

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

8.10. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia

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