ESPE Yearbook of Paediatric Endocrinology

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

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...

Several interesting articles have been published in the field of growth and growth factors during the last twelve months. Here, we report a series of papers mainly selected on the basis of their potential clinical impact. A group of papers focused on the efficacy and/or safety of GH treatment in different conditions associated with short stature, such as Prader-Willi syndrome, GH deficiency alone or associated with type 1 diabetes, small-for-gestational age and achondroplasia....

Preface: The spread of next generation sequencing (NGS) together with the progressive reduction in its cost has led to a broader application of this approach in children with short stature. We have selected a number of papers describing new gene mutations associated with familial short stature, Silver-Russell-like syndrome and syndromic short stature. The roles of IGF-I in the work-up of short stature, GH dose titration, cognitive function, predicting final height, supporting ...

To read the full abstract: J Hepatol. 2019;71(4):802–10. doi: 10.1016/j.jhep.2019.06.023Short summary: Prediabetes is highly prevalent in Caucasian children and adolescents with well-characterized, biopsy-proven non-alcoholic fatty liver disease (NAFLD).Comment: NAFLD is considered the liver presentation of the metabolic syndrome. NAFLD enco...

Preface: This selection of articles in the field of growth and growth factors is characterized by a number of papers unravelling novel pathophysiological mechanisms underlying some forms of severe short stature. Growth plate gene variants have been described in a high proportion of children with severe familial short stature and/or born small for gestational age. Besides, some studies have enriched the knowledge of IGF system physiology showing the key role of IGF-1 receptor i...

PrefaceThe selection of papers in this chapter focused on clinical research, as major advancements in the pathophysiology, diagnostic work-up, management and treatment of growth disorders have been reported in 2020–21. The new cut-off values of blood GH concentrations for diagnosis of GH deficiency in the newborn, the insights into the phenotype and therapeutic response to rhGH in patients with NPR2 mutations, the individualisation of the o...

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...

Most papers selected for this chapter tackle issues with implications for clinical practice. Phase 2 and 3 long-acting GH clinical trials in GHD, SGA and even ISS children have been published in the last year. Use of the IGF-1/IGFBP-3 molar ratio has been re-proposed, with more convincing evidence, for the diagnosis of GH deficiency. An umpteenth reassuring pharma sponsored observational study on rhGH safety with short patient follow-up has been published. The safety and effic...

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...