ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2021

4. Growth and Growth Factors

New Perspectives

ey0018.4-9 | New Perspectives | ESPEYB18

4.9. Prospective longitudinal assessment of linear growth and adult height in female adolescents with anorexia nervosa

D Modan-Moses , A Yaroslavsky , O Pinhas-Hamiel , Y Levy-Shraga , B Kochavi , S Iron-Segev , A Enoch-Levy , A Toledano , D Daniel Stein

J Clin Endocrinol Metab. 2021;106(1):e1–e10. doi: 10.1210/clinem/dgaa510. PMID: 32816013This prospective observational study on a cohort of 255 adolescents with anorexia nervosa (AN) aimed to investigate the effects of nutritional restriction on linear growth and adult height. Whereas premorbid height did not differ from reference standards, girls with AN showed a mild but significantl...

ey0018.4-10 | New Perspectives | ESPEYB18

4.10. Short stature is progressive in patients with heterozygous NPR2 mutations

PC Hanley , HS Kanwar , C Martineau , MA Levine

J Clin Endocrinol Metab. 2020;105(10):dgaa491. doi: 10.1210/clinem/dgaa510. PMID: 32816013This study describes the clinical characteristics of an extended family with novel NPR2 mutations. The family was an Ashkenazi Jewish family with no history of consanguinity and included two sisters with compound heterozygous NPR2 missense mutations causing acromesomelic dysplasia Mar...

ey0018.4-11 | New Perspectives | ESPEYB18

4.11. Genetic architecture associated with familial short stature

Lin Y , Cheng C , Wang C , Liang W , Tang C , Tsai L , Chen C , Wu J , Hsieh A , Lee M , Lin T , Liao C , Huang S , Zhang Y , Tsai C , Tsai F

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

ey0018.4-12 | New Perspectives | ESPEYB18

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

S Peeters , K Declerck , M Thomas , E Boudin , D Beckers , O Chivu , C Heinrichs , K Devriendt , F de Zegher , Hul Van , Vanden Wim , V Berghe , J De Schepper , R Rooman , G Mortier

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...