ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study identifies a reliable cut-off value for the glucagon stimulation test, which may be used as an alternative to the insulin tolerance test (ITT) in the diagnosis of growth hormone deficiency (GHD) in transition age.Many patients with childhood-onset growth hormone deficiency (GHD) show normal GH secretion when re-tested at the end of growth, especially those with isolated GHD and normal or small pituitary gland (1). ITT is recogni...

Brief Summary: This longitudinal study describes the long-term effects of prenatal alcohol exposure on early childhood development. The results clearly show that prenatal alcohol exposure impairs growth and IGF-1 levels in children, highlighting the need for public health interventions to prevent alcohol consumption during pregnancy, especially in low-resource settings.This study assessed the long-term consequences of prenatal alcohol exposure (PAE) on e...

Brief Summary: This single-patient intervention study showed the efficacy of high-dose rhGH treatment in overcoming GH resistance in a child harboring a dominant-negative GH receptor (GHR) mutation.GH insensitivity includes a broad spectrum of defects (1). Laron syndrome is the best-known GH insensitivity syndrome, characterized by recessive mutations in GHR and good response to IGF-I treatment (2). Dominant-negative variants of GHR are extremely rare an...

Brief Summary: This case series describes the effect of recombinant human IGF-1 (rhIGF-1) administration on growth of three siblings with STAT5B homozygous recessive mutations.The peripheral effects of GH are primarily mediated by IGF-I through the activation of the GH receptor (GHR)-signal transducer and activator of transcription (STAT)-5B signaling. Patients carrying STAT5B mutations have severe postnatal growth failure and IGF-I deficiency a...

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...

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...