ESPE Yearbook of Paediatric Endocrinology

N Engl J Med. 2021 Jul 8;385(2):189-191.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34233101/In brief: This study retrospectively analysed a cohort of patients with autosomal dominant hypocalcemia type 1 and recurrent hypocalcemic seizures treated with continuous subcutaneous PTH (1-34) infusions using insulin pumps. Compared to conventional therapy, PTH (1-34)...

J Bone Miner Res. 2022 Feb;37(2):236-243.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34668234/In Brief: This study characterized a large cohort of patients with fibrous dysplasia/McCune Albright syndrome in order to assess the fracture prevalence and identify risk factors for future factures.Commentary: Fibrous dysplasia/McCune-Albright s...

Bone Miner Metab. 2021 Sep;39(5):851-857Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34115219/In brief: Vitamin D plays a pivotal role in calcium homeostasis and bone health; a question is therefore frequently raised regarding the risk of fractures in children with vitamin D deficiency. This is more pertinent in safeguarding cases where it is not uncommon to fin...

J Bone Miner Res. 2021 Nov;36(11):2193-2202Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34355424/In brief: Generalised arterial calcification of infancy (GACI) is clinically and genetically a heterogeneous disorder caused by mutations in ENPP1or ABCC6 variants. This multicentre study identified early mortality risk in GACI patients despite atte...

Orphanet J Rare Dis. 2021 Dec 23;16(1):522.Abstract: https://pubmed-ncbi-nlm-nih-gov/34949201/In Brief: Based on over 37,000 length/height, weight and head circumference measures from 1374 patients with achondroplasia in the USA, updated length/height-for-age, weight-for-age, head circumference-for-age (HC) and weight-for-height curves were generated for children up to 18 years of age (HC u...