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ey0018.1-17 | Pituitary Function and Viral Diseases | ESPEYB18

1.17. Clinical and biochemical features of hypopituitarism among brazilian children with Zika virus-induced microcephaly

LL Ferreira , JP Aguilar Ticona , PS Silveira-Mattos , MB Arriaga , TB Moscato , GC Conceicao , ACD Santos , F Costa , CAD Alves , SR Antonini

JAMA Netw Open. 2021 May 3;4(5):e219878. doi: 10.1001/jamanetworkopen.2021.987.Ferreira et al. assessed postnatal growth and possible hypopituitarism at the age of 27 months in 65 children with microcephaly (head circumference, HC, < -2 S.D.) associated with congenital Zika virus (CZV) infection. Despite short stature, marked microcephaly and severe brain abnorm...

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ey0016.5-12 | Clinical Guidance | ESPEYB16

5.12. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

D Haffner , F Emma , DM Eastwood , MB Duplan , J Bacchetta , D Schnabel , P Wicart , D Bockenhauer , F Santos , E Levtchenko , P Harvengt , M Kirchhoff , F Di Rocco , C Chaussain , ML Brandi , L Savendahl , K Briot , P Kamenicky , L Rejnmark , A Linglart

Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [PMID: 31068690].Abstract: www.ncbi.nlm.nih.gov/pubmed/?termZ31068690In brief: In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medi...

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ey0020.3-9 | Advances in Clinical Practice | ESPEYB20

3.9. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

M Maghnie , O Semler , E Guillen-Navarro , A Selicorni , KE Heath , G Haeusler , L Hagenas , A Merker , A Leiva-Gea , VL Gonzalez , A Raimann , M Rehberg , F Santos-Simarro , DA Ertl , PA Gregersen , R Onesimo , E Landfeldt , J Jarrett , J Quinn , R Rowell , J Pimenta , S Cohen , T Butt , R Shediac , S Mukherjee , K Mohnike

In Brief: Individuals with achondroplasia carry a lifelong burden of reduced physical and mental health. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) found that, across an individuals lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, increased pain and increased healthcare resource utilization.Commentary: Individuals with achondroplasia present with a range of clinic...

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ey0019.4-9 | New Perspectives | ESPEYB19

4.9. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

L Sentchordi-Montane , S Benito-Sanz , M Aza-Carmona , F Diaz-Gonzalez , S Modamio-Hoybjor , la Torre C De , J Nevado , P Ruiz-Ocana , C Bezanilla-Lopez , P Prieto , P Bahillo-Curieses , A Carcavilla , I Mulero-Collantes , AC Barreda-Bonis , J Cruz-Rojo , J Ramirez-Fernandez , de la Vega JA Bermudez , AM Travess , J Gonzalez de Buitrago Amigo , A Del Pozo , E Vallespin , M Solis , C Goetz , A Campos-Barros , F Santos-Simarro , I Gonzalez-Casado , P Ros-Perez , M Parron-Pajares , KE Heath

Eur J Endocrinol, 2021. 185(5): p. 691-705. PMID: 34516402Brief Summary: This study evaluated the prevalence of genetic variants in children with idiopathic short stature (ISS) using next-generation sequencing (NGS). Heterozygous variants in known genes involved in skeletal physiology were identified in almost 20% of children. The use of advanced genetic analysis techniques will lead to an increased identification of new genetic variants, expand...

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ESPE Yearbook of Paediatric Endocrinology

1.17. Clinical and biochemical features of hypopituitarism among brazilian children with Zika virus-induced microcephaly

5.12. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

3.9. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

4.9. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

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