ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Mol Genet. 2018 Jan 15;27(2):359-372See comment on 7.11...

To read the full abstract: EMBO Mol Med. 2017 Oct;9(10):1379-1397[Comments on 7.10 and 7.11] During embryonic development, GnRH neurons originate in the olfactory placode and migrate through the nasal mesenchyme using the olfactory/vomeronasal axons as a scaffold to reach their final destination in the basal forebrain1,2. Th...

Brief summary: This French retrospective observational study evaluated ovarian function, premature ovarian insufficiency (POI) and spontaneous pregnancy in 178 women who had undergone hematopoietic stem cell transplantation (HSCT) for leukemia before puberty; 116/178 had received total body irradiation (TBI) and 62 had received a busulfan-based conditioning regimen.Sixty percent of women needed pubertal induction; only 40% had spontaneous menarche and ha...

Brief summary: This French multicenter prospective study analyzed uterine volume by pelvic MRI in 88 women (age range 18–40 years), who were survivors of childhood acute leukemia treated with hematopoietic stem cell transplantation (HSCT). They were compared to 88 healthy women matched for age and parity.Conditioning regimens before HSCT included alkylating agents for 34 women and total body irradiation (TBI) for 54 women. Scans were centralized and...

Brief summary: In this experimental study, genome editing and in vitro pancreatic differentiation of human pluripotent stem cells (SC) were used to generate ZNT8 loss-of-function (LOF) SC-β-cells. These cells showed accelerated functional maturation, increased insulin secretion and improved resistance to metabolic stress. Transplantation of ZnT8 LOF SC-β-cells into mice with preexisting diabetes significantly improved their glucose levels.<...

Brief summary: MiTy Kids is a prospective cohort study of children who were exposed to metformin during pregnancy. At 24 months, no difference was observed between those exposed to metformin and a placebo group, in BMI trajectories, mean BMI Z-score, or mean sum of skinfolds. Among those exposed to metformin, the BMI was higher among males than females.Comment: Metformin is increasingly used during pregnancy in women with T2D, but data on its lo...

Brief summary: In this double-blind, randomized, placebo-controlled trial, bempedoic acid (Nexletol) reduced the incidence of a composite cardiovascular.Comment: Bempedoic acid is an ATP citrate lyase inhibitor. ATP citrate lyase catalyses the conversion of citrate to acetyl-CoA, the fundamental substrate required for the synthesis of cholesterol and fatty acids. By inhibiting the cholesterol synthesis pathway, bempedoic acid reduces intra-hepatic LDL-C....

Brief Summary: This study provides evidence for the role of miR-137/325 in obesity-induced hypogonadism (OIH) and metabolic dysfunction.Obesity is associated with different forms of gonadal and reproductive dysfunction, including central male hypogonadism (1, 2). Although weight loss is the ideal therapeutic strategy for patients with OIH, significant weight loss is usually difficult to achieve only with lifestyle changes. Hence, androgen administration ...

Brief Summary: This single-centre retrospective cohort study offers valuable insights into the trajectory of weight gain in a paediatric craniopharyngioma cohort over a mean follow-up period of 10.4 years, reinforcing the necessity for targeted interventions to address this issue.Craniopharyngioma poses a substantial clinical challenge in paediatric patients, primarily due to the risk of hypothalamic involvement. A particularly severe long-term consequen...

Brief Summary: These authors performed exhaustive saturation genome editing (SGE) of BAP1 (BRCA1-associated protein 1), the disruption of which is linked to tumorigenesis and altered neurodevelopment. 18,108 unique variants were characterized, of which 6,196 were found to have abnormal functions. These were then used to evaluate phenotypic associations in the UK Biobank. BAP1 variants were also characterized in a large population-ascertained tumor collection,...