ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Reprod. 2018 Nov 1;33(11):2122–2130This longitudinal study of 31 patients (14 males) with Silver-Russell syndrome (SRS) and 123 non-SRS small-for-gestational-age (SGA) patients (65 males) shows that Sertoli cell dysfunction is more common in SRS males, with 11p15 loss of methylation (LOM), but gonadal function seems to be unaffected in SRS females....

Brief summary: In this longitudinal study, the authors investigated the metabolic and cardiovascular health profile of 167 adults born SGA and previously treated with rhGH during a period of 12 years after therapy discontinuation. No relevant differences were found in treated SGA subjects compared with untreated SGA adults or adults born appropriate for gestational age (AGA), thus suggesting long-term metabolic and cardiovascular safety of rhGH treatment in short SGA children....

Brief Summary: This single-center, prospective study used brain MRI to assess the prevalence of cerebrovascular abnormalities in a large cohort of adult patients born SGA and treated with GH during childhood, 12 years after rhGH treatment cessation. GH treatment was not associated with a higher incidence of aneurysms, intracerebral hemorrhages, microbleeds or other vascular abnormalities.The French population-based cohort of the Safety and Appropriatenes...

In Brief: The authors tested the diagnostic ability of the Face2Gene app in 23 children with a clinical or genetically confirmed diagnosis of Silver-Russell syndrome (SRS) and 29 children with genetically confirmed Prader-Willi syndrome (PWS). When combined with careful routine clinical history and examination, the Face2Gene app can be a useful diagnostic tool.Among PWS patients, Face2Gene calculated the top 1, top 5, and top 10 sensitivities to be 76%, ...