ESPE Yearbook of Paediatric Endocrinology

J Pediatr Surg. 2019 Feb 22. pii: S0022-3468(19)30117–4.doi: 10.1016/j.jpedsurg.2019.01.062. PubMed PMID:30905417This literature review aimed to analyze the prevalence of gender dysphoria in 46,XX individuals with CAH raised female and male and to identify subgroups with a higher likelihood of gender dysphoria. In total 1770 papers published between 1988 ...

To read the full abstract: J Clin Endocrinol Metab 2018;103:158-168Defects at the GNAS locus give rise to various phenotypes, several of which are associated with subcutaneous ossifications (SCOs), which cause significant morbidity among the affected individuals. A subgroup of patients with paternally inherited GNAS mutations have progressive osseous heteroplasia (POH), characterized by severe he...

Brief summary: This study investigated how frequently negative terminology such as ‘fail’ and ‘morbid obesity’ was used in scientific publications dealing with bariatric surgery in peer reviewed journals. 2.4% of the publications analyzed included the term ‘fail’ and 16.8% contained the term ‘morbid’ in conjunction with obesity. This study showed that negative language, blaming the patient for the lack of weight loss or weight regain, wa...

Diabetes Care. 2020 Oct;43(10):2544–2552. doi: 10.2337/dc19-2164. PMID: 32778556.In brief: This cross-sectional study compared bone mineral density (BMD), lean body mass and abdominal visceral fat between 180 individuals with T2DM, 226 with obesity, and 238 with normal weight, aged 10–23 years. The findings suggest that T2DM in youth may have a detrimental effect on bone accru...

Diabetologia 2019 Feb;62(2):249–258. doi: 10.1007/s00125-018-4758-0.This is the first population-based study to examine the relative contribution of maternal diabetes, excess birthweight and breast-feeding on the risk of being overweight and obese in childhood.Being large for gestational at birth is a potentially modifiable factor and this study highlights the...

To read the full abstract: J Clin Endocrinol Metab. 2018 Aug 1; 103(8):2785GH deficiency (GHD) is common among children treated for cancer, especially among childhood cancer survivors (CCS) with tumors/surgery in the hypothalamic-pituitary (HP) region, CCS exposed to HP radiation or CCS exposed to cranial (CIR), craniospinal (CSI), or total body irradiation (TBI). However, most of existi...

To read the full abstract: J Clin Endocrinol Metab. 2018 Aug 1; 103(8): 2794This systematic review and meta-analysis was conducted by a US Endocrine Society Task Force in order to inform new guidelines on the management of childhood cancer survivors (CCS). The aim of this review was to evaluate the effects of GH therapy on final height, risk of diabetes mellitus, lipid abnormalities, met...

To read the full abstract: Elife 2018;7. pii: e33318Here, Cheung et al. use sophisticated tissue specific genetic ablation in pituitary cell lineages to uncover an unexpected differential sensitivity of NOTCH activation signalling pathway in different cell lineages during the embryonic murine pituitary development. These findings are important as they further demonstrate the importance of NOTCH pat...

To read the full abstract: J Clin Endocrinol Metab. 2018 Mar 1;103(3):1042-1047See Comment under 2.4....

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...