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: This study describes the clinical characteristics of pathogenic variants in the ACAN gene and the response to rhGH treatment over three years in children with a heterozygous ACAN variant. The results indicate that rhGH therapy may be considered to reduce the height deficit in these patients, particularly in prepubertal children with ACAN deficiency.Aggrecan is the major proteoglycan of the cartilage growth plate. Homozygo...