ESPE Yearbook of Paediatric Endocrinology

In Brief: This phase 2 study investigated the effect of the RANKL inhibitor denosumab on fibrous dysplasia lesion activity, as well as the rebound in bone turnover after treatment discontinuation.Commentary: Denosumab is a humanized monoclonal antibody that inhibits RANKL with potent but transient antiosteoclastic effects, and discontinuation of denosumab treatment is associated with a rebound in bone turnover. In this study, eight women received high do...

Brief summary: The authors provide the first description of antagonistic hormone mutations as the cause of congenital disease in humans. The paper describes detailed characterizations of two novel, antagonistic leptin mutations underlying a formerly unrecognized form of congenital leptin dysfunction and delineate the challenges these mutations pose to the diagnosis and therapy of the disease.After the initial description of biologically inactive leptin v...

Brief Summary: This randomized-control study at two rural hospitals in Malawi investigated the feasibility of continuous glucose monitoring (CGM) to improve care of patients with Type 1 diabetes (T1D) in a low-income and limited literacy setting. CGM was feasible with potential benefits, but the authors highlight several challenges in implementing advanced diabetes care in such settings.This trial 2:1 randomized 45 patients with T1D to Dexcom G6 CGM (n=3...

Nat Commun. 2021 Jan 13;12(1):362 Abstract: https://pubmed.ncbi.nlm.nih.gov/33441552/In brief: Heterogenous differentiation patterns and low yields limit the use of human induced pluripotent stem cells (hiPSCs) for the generation of cartilage. In the present work, bulk- and single cell RNA sequencing during chondrogenic differentiation were used to identify regulatory networks resp...

J Clin Endocrinol Metab. 2021, 106(10):e4142-e4154. doi: 10.1210/clinem/dgab352. PMID: 33999151.Brief Summary: The authors show that patients with hypopituitarism and FOXA2 gene defects also need screening for dysfunction of the pancreas.The Forkhead box A2 transcription factor (FOXA2) is important for normal development of the central nervous system, i...

Hum Mol Genet ddac107 (2022)Abstract: https://pubmed.ncbi.nlm.nih.gov/35567544/In Brief: Disproportionate tall stature represents a hallmark feature of Marfan syndrome, although specific mechanisms underlying linear bone overgrowth are unclear. This study used an ex vivo model system to identify dysregulation of TGFβ-binding proteins in the outer perichondrium as causative for the bon...

sophie.welsch@uclouvain.be Diabet Med. 2022; 39: e14720. PMID: 34652870.Brief Summary: Childhood cancer survivors are at increased risk of hyperglycaemia and diabetes due to cancer treatments as asparaginase, steroids and total body irradiation. This single center, retrospective study analyzed the prevalence of hyperglycaemia in 267 patients treated between 2004 and 2019 for hematologic malignancie...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz255. PMID: 31825489.P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive variant of congenital adrenal hyperplasia (CAH) arising from homozygous or compound heterozygous mutations to the gene encoding the enzyme P450 oxidoreductase (POR ) (1). Patients with PORD have a range of skeletal malformation...

To read the full abstract: Hematol Oncol. 2019 Dec;37(5):609–616. mar26@mp.plAcute lymphoblastic leukaemia (ALL) is the most common childhood neoplasia with an actual survival rate >80%. ALL treatment has changed considerably during last 30 years; radiotherapy with 24 Gy to the central nervous system (CNS) has been eliminated or reduced to lower doses (12 or 18 Gy) and chemotherapy regimens are now tailo...

To read the full abstract: Pediatr Blood Cancer. 2019;66(12):e27981. sgeorg4@emory.eduThis cross-sectional study tested the concordance between young adult (or parent proxy)-reported premature ovarian insufficiency (POI) and biochemical evidence of POI, defined as FSH ≥40 mIU/ml, in 182 childhood cancer survivors (CCS) who had received gonadotoxic therapy. Reported POI was defined as the survivor taki...