ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 19 of about 453 results

ey0018.3-8 | Congenital hypothyroidism | ESPEYB18

3.8. Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

P van Trotsenburg , A Stoupa , J Leger , T Rohrer , C Peters , L Fugazzola , A Cassio , C Heinrichs , V Beauloye , J Pohlenz , P Rodien , R Coutant , G Szinnai , P Murray , B Bartes , D Luton , M Salerno , L de Sanctis , M Vigone , H Krude , L Persani , M Polak

Thyroid. 2021:387–419. doi: 10.1089/thy.2020.0333.These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and European Society for Endocrinology (ESE) guidelines for congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects of the disease.The first ...
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ey0018.7-2 | Clinical Guidance | ESPEYB18

7.2. Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations

CE Seraphim , APM Canton , L Montenegro , MR Piovesan , DB Macedo , M Cunha , A Guimaraes , CO Ramos , AFF Benedetti , A de Castro Leal , PC Gagliardi , SR Antonini , M Gryngarten , AJ Arcari , AP Abreu , UB Kaiser , L Soriano-Guillen , A Escribano- Munoz , R Corripio , JI Labarta , L Travieso-Suarez , NV Ortiz-Cabrera , J Argente , BB Mendonca , VN Brito , AC Latronico

J Clin Endocrinol Metab. 2021 Mar 25;106(4):1041–1050. 10.1210/clinem/dgaa955. PMID: 33383582. https://academic.oup.com/jcem/article-abstract/106/4/1041/6056669?redirectedFrom=fulltextIn brief: This paper describes the clinical and hormonal features of a large cohort of patients wit...
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ey0017.8-3 | Important for Clinical Practice | ESPEYB17

8.3. Frequency and incidence of Carney complex manifestations: A prospective multicenter study with a three-year follow-up

S Espiard , MC Vantyghem , G Assie , C Cardot-Bauters , G Raverot , F Brucker-Davis , F Archambeaud-Mouveroux , H Lefebvre , ML Nunes , A Tabarin , A Lienhardt , O Chabre , M Houang , M Bottineau , S Stroer , L Groussin , L Guignat , L Cabanes , A Feydy , F Bonnet , MO North , N Dupin , S Grabar , D Duboc , J Bertherat

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgaa002. PMID: 31912137.Carney complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome, described in 1985 by J. Aidan Carney (1). The diagnostic criteria include dermatologic manifestations (spotty skin pigmentation with typical periorificial distribution [known as lentigines], cutaneou...
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ey0016.5-14 | Basic Science - Growth Plate | ESPEYB16

5.14. A radical switch in clonality reveals a stem cell niche in the epiphyseal growth plate

PT Newton , L Li , B Zhou , C Schweingruber , M Hovorakova , M Xie , X Sun , L Sandhow , AV Artemov , E Ivashkin , S Suter , V Dyachuk , M El Shahawy , A Gritli-Linde , T Bouderlique , J Petersen , A Mollbrink , J Lundeberg , G Enikolopov , H Qian , K Fried , M Kasper , E Hedlund , I Adameyko , L Savendahl , AS Chagin

Abstract: Nature. 2019 Mar;567(7747):234–238.In brief: In this article, the authors present evidence that the murine epiphyseal growth plate develops a postnatal stem cell niche with monoclonal properties, that are able to self-renew. They thereby challenge the concept of a continous depletion of progenitor cells as a limiting factor for bone growth.<p class="abste...
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ey0015.4-12 | New mechanisms | ESPEYB15

4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

M Gutiérrez , P Scaglia , A Keselman , L Martucci , L Karabatas , S Domené , A Martin , P Pennisi , M Blanco , N Sanguineti , L Bezrodnik , D Di Giovanni , MS Caldirola , ME Azcoiti , MI Gaillard , LA Denson , K Zhang , A Husami , NH Yayah Jones , V Hwa , S Revale , M Vázquez , H Jasper , A Kumar , H Domené

To read the full abstract: Mol Cell Endocrinol 2018; 15;473:166-177Signal transducers and activators of transcription (STAT) proteins are transcription factors transiently activated by different ligands such as cytokines, growth factors, or peptides, which trigger intracellular tyrosine phosphorylation along the JAK-STAT signaling pathway. Phosphorylated STAT induces...
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ey0020.8-10 | New Paradigms | ESPEYB20

8.10. Functional and metabolic alterations of gut microbiota in children with new-onset type 1 diabetes

X Yuan , R Wang , B Han , C Sun , R Chen , H Wei , L Chen , H Du , G Li , Y Yang , X Chen , L Cui , Z Xu , J Fu , J Wu , W Gu , Z Chen , X Fang , H Yang , Z Su , J Wu , Q Li , M Zhang , Y Zhou , L Zhang , G Ji , F Luo

Brief summary: Using in-depth multi-omics analyses of human type 1 diabetes (T1D) samples, the authors profiled gut microbial functional and metabolic alterations. The T1D microbiota showed decreased butyrate production and bile acid metabolism and increased lipopolysaccharide (LPS) biosynthesis. Fecal microbiota transplantation in animal models proved that T1D gut microflora is a causative factor in the regulation of glucose metabolism.The etiology of T...
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ey0021.6-10 | New Clinical Insights into Klinefelter Syndrome | ESPEYB21

6.10. Detection of chromosomal aneuploidy in ancient genomes

K Anastasiadou , M Silva , T Booth , L Speidel , T Audsley , C Barrington , J Buckberry , D Fernandes , B Ford , M Gibson , A Gilardet , I Glocke , K Keefe , M Kelly , M Masters , J McCabe , L McIntyre , P Ponce , S Rowland , J Ruiz Ventura , P Swali , F Tait , D Walker , H Webb , M Williams , A Witkin , M Holst , L Loe , I Armit , R Schulting , P Skoglund

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...
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ey0021.9-5 | Fertility Issues | ESPEYB21

9.5. Fertility potential and gonadal function in survivors of reduced-intensity hematopoietic stem cell transplantation

SJ Rotz , BK Hamilton , W Wei , I Ahmed , SA Winston , S Ballard , RJ Bernard , P Carpenter , N Farhadfar , C Ferraro , BD Friend , NJ Gloude , RJ Hayashi , K Hoyle , K Jenssen , J Koo , CJ Lee , L Mariano , R Nawabit , A Ngwube , N Lalefar , R Phelan , L Perkins , A Rao , A Rayes , T Sandheinrich , L Stafford , K Tomlinson , S Whiteside , C Wiedl , K Myers

Brief Summary: This multicenter, international, retrospective study evaluated fertility potential and gonadal function in 326 adolescent and young adult cancer survivors. Risk factors for impairment included hematopoietic stem cell transplantation (HCT) conditioning regimen (myeloablative conditioning, MAC vs reduced-intensity conditioning, RIC).The prevalence of gonadal hormone failure in females was 55.3% (defined as FSH >30 mIU/mL with an estradio...
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ey0018.2-9 | Neonatal diabetes mellitus | ESPEYB18

2.9. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

R Bonfanti , D Iafusco , I Rabbone , G Diedenhofen , C Bizzarri , PI Patera , P Reinstadler , F Costantino , V Calcaterra , L Iughetti , S Savastio , A Favia , F Cardella , D Lo Presti , Y Girtler , S Rabbiosi , G D'Annunzio , A Zanfardino , A Piscopo , F Casaburo , L Pintomalli , L Russo , V Grasso , N Minuto , M Mucciolo , A Novelli , A Marucci , B Piccini , S Toni , F Silvestri , P Carrera , A Rigamonti , G Frontino , M Trada , D Tinti , M Delvecchio , N Rapini , R Schiaffini , C Mammi , F Barbetti

Eur J Endocrinol. 2021 Apr;184(4):575–585. doi: 10.1530/EJE-20-1030. PMID: 33606663.These authors examined the likelihood of remission of diabetes without pharmacological therapy in a retrospective analysis of 34 Italian patients with Transient neonatal diabetes (TNDM).TNDM is a type of neonatal diabetes that remits within the first a few months of life. It is most ...
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ey0015.7-8 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella , SR Howard , JS Acierno , C Xu , GE Papadakis , FA Santoni , AA Dwyer , S Santini , GP Sykiotis , C Chambion , J Meylan , L Marino , L Favre , J Li , X Liu , J Zhang , PM Bouloux , C Geyter , A Paepe , WS Dhillo , JM Ferrara , M Hauschild , M Lang-Muritano , JR Lemke , C Flück , A Nemeth , F Phan-Hug , D Pignatelli , V Popovic , S Pekic , R Quinton , G Szinnai , D l'Allemand , D Konrad , S Sharif , ÖT Iyidir , BJ Stevenson , H Yang , L Dunkel , N Pitteloud

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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