ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This cross-sectional study aimed to define if childhood cancer was related to delayed achievement of psychosocial milestones in later life.Data of 252 male childhood cancer survivors (CCS) diagnosed with haematological or solid tumours between 1964 and 2000, with 6-42 years of survival, were collected and compared with 5 matched controls for each patient. CCS moved away from their parental home as frequently as population controls but were...

Brief Summary: This multicenter, international, retrospective study evaluated fertility potential and gonadal function in 326 adolescent and young adult cancer survivors. Risk factors for impairment included hematopoietic stem cell transplantation (HCT) conditioning regimen (myeloablative conditioning, MAC vs reduced-intensity conditioning, RIC).The prevalence of gonadal hormone failure in females was 55.3% (defined as FSH >30 mIU/mL with an estradio...

Brief Summary: This study explored the potential causal pathways underlying the association between childhood-onset T1D and subsequent psychiatric disorders, using data from a Czech national register of 4,500 children (age ≤14 years) with type 1 diabetes (T1D) and large-scale European genetic studies. Children diagnosed with T1D had an elevated risk of developing substance use, mood, anxiety and personality disorders, and behavioural syndromes. In contrast, they had a lo...

Brief Summary: This study describes how the primary cilia of hypothalamic neurons bearing melanocortin-4 receptors (MC4R) progressively shorten with age, leading to reduced sensitivity to satiety signals, increased appetite, and obesity. This age-related ciliary shortening is exacerbated by chronic leptin-melanocortin signalling, but can be mitigated by dietary restriction or knockdown of ciliogenesis-associated kinase 1 (CILK1). These findings suggest potential therapeutic ap...

Brief Summary: This population-based cohort study estimated all-cause and cause-specific mortality in 108,061 individuals with newly diagnosed T2D, (16–50 years of age) compared to 829,946 individuals without T2D. Higher relative risks of mortality in younger individuals with vs. without T2D ranged from 4 to 11, depending on the cause of death.Comment: A decade ago, a Markov-like computer model simulated the life course of a hypothetical cohort of U...

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

Nat Med, 2021 Jun;27(6):1088–1096. 10.1038/s41591-021-01349-y. https://pubmed.ncbi.nlm.nih.gov/34045736/This paper reports the high prevalence of MC4R loss-of-function (LoF) variants in a normal population and their large impact on longitudinally assessed anthropometric traits from birth to young adult life.Th...

J Med Biochem. 2020 Sep 2;39(3):283–289. doi: 10.2478/jomb-2019-0038. PMID: 33269016.In brief: This case report serves as a platform to discuss the differential diagnosis of severe hypercholesterolemia. A young woman with T1DM and autoimmune liver disease presented with an LDL cholesterol value >1000 mg/dl (>26 mmol/l). She had no family history to suggest familial hyp...

Nat Metab. 2021;3(11):1552-68. doi: 10.1038/s42255-021-00481-w.PubMed ID: 34697471Brief summary: This study identified a genetic locus on mouse chromosome 17, containing the gene Ndufv2, that controls mitochondrial mass and function in adipose tissue in a sex- and tissue-specific manner. In female mice, Ndufv2 regulated the expression of 89 mitochondrial genes, with invol...

To read the full abstract: J Clin Endocrinol Metab. 2020 Jan 1;105(1):dgz034.Using different genetic approaches, the authors identified 5 novel pathogenic or likely pathogenic IGF2 gene variants in Japanese patients who underwent genetic testing for the variable associations of multiple congenital anomalies such as mental retardation, Silver-Russell syndrome (SRS), disorders of sex development (DSD), ectrodactyly (split hand/foot malfor...