ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 3 results

ey0018.3-14 | Clinical studies | ESPEYB18

3.14. Identification of resistance to exogenous thyroxine in humans

N Lacamara , B Lecumberri , B Barquiel , A Escribano , I Gonzalez-Casado , C Alvarez-Escola , F Aleixandre-Blanquer , F Morales , R Alfayate , MC Bernal-Soriano , R Miralles , I Yildirim Simsir , AG Ozgen , J Bernal , P Berbel , JC Moreno

Thyroid. 2020;30:1732–1744. doi: 10.1089/thy.2019.0825.This study is of importance, revealing a relevant clinical problem in patients under long-term levothyroxine (LT4) substitution and challenging the concept that all hypothyroid patients can be well controlled with LT4 monotherapy.Lacámara et al. present a small but elegant clinical study describi...
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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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ey0021.7-5 | Clinical Guidance and Studies | ESPEYB21

7.5. Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

APM Canton , FR Tinano , L Guasti , LR Montenegro , F Ryan , D Shears , ME de Melo , LG Gomes , MP Piana , R Brauner , R Espino-Aguilar , A Escribano-Munoz , A Paganoni , JE Read , M Korbonits , CE Seraphim , SS Costa , AC Krepischi , AAL Jorge , A David , LR Kaisinger , KK Ong , JRB Perry , AP Abreu , UB Kaiser , J Argente , BB Mendonca , VN Brito , SR Howard , AC Latronico

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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