ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 7 results

ey0017.3-3 | Thyroid development | ESPEYB17

3.3. Glis3 as a critical regulator of thyroid primordium specification

G Rurale , F Marelli , P Duminuco , L Persani

To read the full abstract: Thyroid. 2020;30:277–289.GLIS3 gene mutations are associated with a syndrome that combines neonatal diabetes and congenital hypothyroidism due to thyroid dysgenesis [1]. Glis3 knockout mouse models showed functional deficits of thyroid hormone synthesis but were not able to shed light on the role of Glis3 during thyroid organogenesis resulting in thyroid dysgenesis. Rurale et al.</em...
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ey0016.3-16 | New Guidelines | ESPEYB16

3.16. 2018 European Thyroid Association (ETA) Guidelines on the diagnosis and management of central hypothyroidism

L Persani , G Brabant , M Dattani , M Bonomi , U Feldt-Rasmussen , E Fliers , A Gruters , D Maiter , N Schoenmakers , ASP van Trotsenburg

Eur Thyroid J. 2018;7:225-37. doi: 10.1159/000491388. Epub 2018 Jul 19https://www.ncbi.nlm.nih.gov/pubmed/30374425Diagnosis and treatment of central hypothyroidism are much more complex than for primary hypothyroidism. For the first time, guidelines summarize all the available evidence to provide a thorough state of...
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ey0017.3-6 | Congenital hypothyroidism | ESPEYB17

3.6. Neonatal screening for congenital hypothyroidism: what can we learn from discordant twins?

E Medda , MC Vigone , A Cassio , F Calaciura , P Costa , G Weber , T de Filippis , G Gelmini , M Di Frenna , S Caiulo , R Ortolano , D Rotondi , M Bartolucci , R Gelsomino , S De Angelis , M Gabbianelli , L Persani , A Olivieri

To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positi...
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ey0020.5-12 | Basic Research | ESPEYB20

5.12. Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism

L Cotellessa , F Marelli , P Duminuco , M Adamo , GE Papadakis , L Bartoloni , N Sato , M Lang-Muritano , A Troendle , WS Dhillo , A Morelli , G Guarnieri , N Pitteloud , L Persani , M Bonomi , P Giacobini , V Vezzoli

Brief summary: Using a combination of expression studies in human embryos as well as functional studies in zebrafish and genetic sequencing of patient with congenital hypogonadotropic hypogonadism, this study identified a novel role for Jag1/Notch signaling in the development of GnRH neurons.GnRH neurons have a unique characteristic as they start life in the olfactory placode and then migrate into the hypothalamus during embryonic development, thanks to ...
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ey0020.7-2 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.2. Towards an individualized management of pubertal induction in girls with hypogonadism: insight into the best replacement outcomes from a large multicentre registry

G Rodari , S Federici , T Todisco , G Ubertini , A Cattoni , M Pagano , F Giacchetti , E Profka , V Citterio , D Messetti , V Collini , D Soranna , E Carbone , M Arosio , G Mantovani , L Persani , M Cappa , M Bonomi , C Giavoli

Brief summary: This longitudinal observational multicentre retrospective study, collected data on 95 young prepubertal or early pubertal girls (age >10.9 years, Tanner stage ≤2) with premature ovarian failure (POI) or hypogonadotropic hypogonadism (HH). Their hypogonadism was due to different causes and was treated with transdermal 17β-oestradiol, with a follow-up of at least 1 year. The study aimed to identify the most physiological and effective therapeutic sc...
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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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ey0015.6-15 | When should an extensive genetic investigation be performed? | ESPEYB15

6.15 Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

MF Portnoi , MC Dumargne , S Rojo , SF Witchel , AJ Duncan , C Eozenou , J Bignon-Topalovic , SA Yatsenko , A Rajkovic , M Reyes-Mugica , K Almstrup , L Fusee , Y Srivastava , S Chantot-Bastaraud , C Hyon , C Louis-Sylvestre , P Validire , C de Malleray Pichard , C Ravel , S Christin-Maitre , R Brauner , R Rossetti , L Persani , EH Charreau , L Dain , VA Chiauzzi , I Mazen , H Rouba , C Schluth-Bolard , S MacGowan , WHI McLean , E Patin , E Rajpert-De Meyts , R Jauch , JC Achermann , JP Siffroi , K McElreavey , A Bashamboo

To read the full abstract: Hum Mol Genet. 2018 Apr 1;27(7):1228-1240See comment on 6.16...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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