ESPE Yearbook of Paediatric Endocrinology

Horm Res Paediatr. 2021;94(11-12):456-466. PMID: 35086092Brief Summary: This study reports 2 girls with a complex phenotype associated with severe short stature and IUGR who were diagnosed with a de novo 17p13. 3 deletion by array-CGH. The deletion involved the CRK gene that transcribes for Crk protein, a component of GH and IGF-I receptor signaling pathways. In vitro assay confirmed defective CRK expression and GH/IGF1 signali...

To read the full abstract: PLoS One. 2018;13:e0201566.NAFLD is a multifactorial disease characterized by an abnormal accumulation of fat in the liver without a history of significant alcohol intake. NAFLD is the most common form of chronic liver disease, affecting 30% of adults and 10% of children in the USA [1]. Alarmingly, its prevalence is increasing worldwide paralleling to the incre...

Address correspondence to: Stefano Cianfarani IRCCS “Bambino Gesù” Children’s Hospital P.zza S. Onofrio, 4 00165, Roma, Italy E-mail: stefano.cianfarani@uniroma2.it Tel. +39 06 6859 3074 (Hosp.)/+39 06 72596178 (Lab.) Fax. +39 06 6859 2508 (Hosp.)/+39 06 72596172 (Lab.)...

Lancet Diabetes Endocrinol. 2020;8(8):683–692. doi: 10.1016/S2213-8587(20)30163-7. PMID: 32707116SAGhE is a large independent European consortium including eight different countries (Belgium, France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK) which was set up to evaluate the long-term safety of rhGH in a large cohort (>24 000) of young adult patients t...