ESPE Yearbook of Paediatric Endocrinology

Brief summary: This commentary discusses the implications of the recent licensing of Teplizumab by the Food and Drug Administration (FDA) as the first immunosuppressant for individuals at risk for type 1 diabetes (T1D).The approval of Teplizumab by the FDA in November 2022, as an intervention to delay the onset of stage 3 T1D (clinical T1D) in adults and children aged 8 or older who have stage 2 T1D (two or more islets autoantibodies and dysglycemia but ...

Brief summary: Using data on 4964 type 1 diabetes (T1D) cases and 7497 controls, this study assessed whether the effect of common genetic variants (SNPs) on risk of T1D is mediated through trans-effects on the expression of core genes. Nine putative core genes were identified, all implicated in immune system regulation. In addition, four T1D-associated genomic regions were identified as master regulators that have trans-effects on gene expression.<p class="abstext...

Brief summary: This review article discusses the influence of genetics on type 1 diabetes (T1D), particularly with regard to differences across diverse genetic ancestries, and the development of validated genetic risk scores (GRS) for use various populations. These may contribute to disease prevention and treatment.The autoimmune destruction of pancreatic beta cells is triggered by the interaction of genetic predisposition and environmental factors. T1D ...

Brief Summary: IGF1R signaling in cells expressing Kiss1 gene affects energy balance, food intake, and physical activity in a sex-specific manner. Female IGF1RKiss1 mice showed lower body weight and food intake plus higher energy expenditure and physical activity. This phenotype was associated with higher proopiomelanocortin (POMC) expression. The additional deletion of insulin receptor (IR) in Kiss1-expressing cells reversed the lean phenotype seen in female IGF1R<...

Brief Summary: This retrospective study of 123 Danish girls treated with GnRHa for idiopathic central precocious puberty (CPP) shows that GnRH agonists do not impact body mass index during and after cessation of treatment.The use of GnRH agonists (GnRHa) for treatment of girls with CPP is well established but the potential long term effects of GnRHa remain a matter of debate, especially regarding their impact on weight evolution1,2.<p clas...

Brief Summary: This translational study identifies significant shifts in bile acid composition associated with puberty in female adolescents and rats and identifies a new mechanism of GnRH secretion regulation by bile acid.Metabolic cues regulate the reactivation of the GnRH system at puberty. The last few years have identified leptin, ghrelin and essential fatty acids as permissive or inhibitory cues regulating GnRH neuron activity1-4. The ef...

Brief Summary: This qualitative study investigated parental communication with their daughters regarding variation in clitoral size related to severity of classical congenital adrenal hyprplasia (CAH). The authors conducted semi-structured in-person interviews with 24 parents of children with a specific genital difference, without direct exploration of parental values regarding the clitoris or the application of adequate psychosocial care.Comment: CAH du...

Brief Summary: This retrospective cohort study included 54 pre- or peri-pubertal boys affected by hematological cancer who underwent a testicular biopsy for fertility preservation at the time of diagnosis, before any gonadotoxic treatment. The presence of cancer cells in immature testicular tissue of young boys was assessed by histology, immunohistochemistry (IHC) and PCR at the time of cryopreservation, before treatment. Contamination by cancerous cells was found in 10/28 boy...

Brief Summary: This retrospective cohort study assessed whether estimated treatment gonadotoxicity and posttreatment menstrual patterns are associated with higher infertility risk perception in a group of survivors of adolescent or young adult cancer (age 15-39 years).Participants reported their menstrual pattern and infertility risk perception and were categorized as increased risk (feeling less fertile or unable to become pregnant) or no increased risk...

Brief Summary: This retrospective study evaluated fracture risk among 2372 children and adolescents (59% females, aged 1-16) with biopsy-proven celiac disease (CD) compared to 11,860 children without CD matched by age, sex, socioeconomic status, and population sector (general Jewish population, ultra-orthodox Jews and Arabs). The overall fracture incidence rate was higher in the CD group (256 vs 165 per 10,000 patient-years).Median age at the end of the ...