ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Med Genet. 2019 Mar 15. pii: jmedgenet-2018-105714. [Epub ahead of print].Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumours that can arise either from the adrenal medulla (pheochromocytomas, PCC) or from extra-adrenal paraganglia (paragangliomas, PGL). PPGLs are considered to be the most heritable of human tumours with at least...

To read the full abstract: Trends Endocrinol Metab. 2018; 29(10):675–685This paper comprehensively reviews current knowledge on epigenetic mechanisms in adipose tissue that may account for transgenerational dysregulation of adipocyte formation and adipose tissue function.There is increasing evidence that adult-onset disorders, including obesity, may derive fro...

Cell 2018;175:605–614.DOI: 10.1016/j.cell.2018.07.044.http://www.ncbi.nlm.nih.gov/pubmed/30340032Summary: Epidemiological, clinical intervention trials and experimental evidence indicate the negative impact of excessive carbohydrate uptake. This review details the history of carbohydrate consumption and mechanisms of ca...

To read the full abstract: Nat Rev Endocrinol 2017;13:588-598Central hypothyroidism has received much interest in recent years, partly due to the discovery of new causal gene mutations. This is a comprehensive review on several aspects of central hypothyroidism. It discusses prevalence, and its variation between different countries; pitfalls in diagnosis, including assay interference; concurrent...

To read the full abstract: Eur J Endocrinol 2017;177:D1-D12Newborn screening (NBS) is an invaluable tool for identification of CH; however almost 70% of newborns worldwide do not benefit from NBS at all. In countries with NBS, lowering of TSH cut-offs over the years led to major controversy on the optimal TSH screening cut-off. In this very interesting debate paper, arguments are presented f...

To read the full abstract: J Adolesc Health. 2017 Jul;61(1):120-123Recent developments in assisted reproduction technologies (ART) have changed the scene for fertility wishes in a number of disorders, including GD. Fertility preservation is now routinely offered to postpubertal adolescent and adult GD patients at increasing numbers of medical centers. For biological boys, this is a non...

To read the full abstract: Sex Dev. 2018;12(1-3):123-134There is a paucity of psychological follow-up studies in DSD patients. This is especially problematic since differences in sex development often affect the individual in fundamental ways that are related to their self-perception and social experiences. In this paper, the authors explain, in an illustrative way, the different strategies that can ...

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...