ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Diabetes Care 2018;41:1089-1096These findings show that a 1-SD increase in childhood BMI was associated with a 47–83% increased relative risk of T2DM and a 28% increased relative risk of CAD in adult life, yet childhood BMI was not associated with adult chronic kidney disease. This is the first study to examine the causal relationship between childhood BMI and cardio-...

To read the full abstract: Science 2018;359:1395-1399Brain development and behavior are influenced by early life experiences, such as nutrients, stress, adversity and maternal care. While we believe the epigenome is the mediator, these authors investigated whether the genome itself of individual brain cells could be changed by environmental factors. A possible mechanism relies on mo...

To read the full abstract: Journal of clinical endocrinology and metabolism vol. 105,8 (2020): dgaa162. doi: https://academic.oup.com/jcem/article/105/8/dgaa162/5813981This longitudinal study (n =16) suggests that responses to kisspeptin administration could predict later pubertal outcomes for patients with delayed puberty. The management of...

To read the full abstract: Int J Cancer. 2020 Mar 13. doi: 10.1002/ijc.32963. Epub ahead of print. susi.kriemlerwiget@uzh.chChildhood cancer survivors (CCS) can experience impaired bone health as a consequence of the disease itself, the specific treatments and/or associated chronic conditions. This cross-sectional study analyses baseline data from th...

To read the full abstract: Nature Communications 2018;9:1544Obesity prevalence is generally higher in women than in men, and there is also a sex difference in body fat distribution. Sex differences in obesity can be explained in part by the influence of gonadal steroids on body composition and appetite; however, behavioural, and socio-cultural factors may also play a role. Here is th...

Brief summary: In the prospective PROCURE study cohort (n=1783), 11-oxygenated androgens were studied in all men with newly diagnosed localized prostate cancer before undergoing radical prostatectomy. Data were related to clinical outcomes (e.g. metastatic disease). Levels of the adrenal androgen precursor 11b-OH-androstenedione were associated with progressive disease, while levels of the predominant bioactive 11-ketotestosterone and its metabolite 11-ketoandrosteron...

Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. PMID: 34270938.Brief Summary: This study reports splice-disruptive variants in POU1F1 in 4 families with hypopituitarism and uses a high-throughput splicing reporter assay to create a comprehensive catalogue of such variants in or near exon 2 of the gene. The catalogue paves the way for identifying synon...

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

On behalf of the European Organisation for Research and Treatment of Cancer (EORTC) Children’s Leukemia Group (CLG)caroline.piette@chuliege.be Human Reproduction, 2022; 37: 44–53. PMID: 34788455.Brief Summary: This case-control study evaluated fertility status in childhood acute lymphoblastic leukaemia (ALL) survivors enrolled in the European Organisation for Research and Treatment of Ca...

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...