ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2018;103:3720–28.This nationwide prospective surveillance study aimed to estimate the performance of the current UK recommended TSH threshold (10 mU/L on day 5 after birth) for newborn blood spot screening compared to lower thresholds: 8 mU/L and 6 mU/L. Over a 12-month period, the authors included all patients with positive TSH ba...

To read the full abstract: Clin Endocrinol. 2018;89:56–64.McCune Albright syndrome (MAS) is a rare disorder caused by somatic gain-of-function mutations of the GNAS gene [1]. This gene encodes the α-subunit of the Gs protein and its mutations are responsible for persistent stimulation of adenylyl cyclase and dysregulated production of cyclic AMP leading to persistent o...

Eur J Endocrinol. 2018 Oct 12;179(5):R219–R237.doi: 10.1530/EJE-18-0227. PubMed ID: 30049812The rapidly increasing number of adolescents with gender dysphoria represents a challenge for psychiatric assessments and the endocrine management of those who are considered to warrant gender change. The diagnostics are more than complicated and the clinical management from ...

To read the full abstract: J Endocr Soc. 2018; 3(1): 250–263.Prenatal treatment with dexamethasone (DEX) has been used to avoid virilization in girls with Congenital Adrenal Hyperplasia (CAH). However, it has potential short- and long-term risks and has been associated with cognitive impairments. Here, the authors investigate whether epigenetic modification of DNA during early devel...

To read the full abstract: Diabetes Care. 2019;42:1297–1304In normal populations, high BMI is associated with higher mortality and morbidity, in particular from cardiovascular disease (CVD). In contrast, in type 1 diabetes (T1D), low body weight has been associated with increased mortality risks. This study investigated the importance of weight and weight gain/loss in patients with ...

To read the full abstract: Endocr Rev. 2019;40(1):193–235This paper combines a comprehensive review of current knowledge on pathophysiologic mechanisms contributing to hypothalamic obesity in craniopharyngioma patients with a systematic literature review of intervention studies for weight management in this patient population. Findings of both reviews are merged into evidence-...

Cell. 2018; 175(2): 514–29 e20.URL: http://www.ncbi.nlm.nih.gov/pubmed/30220461Summary: The enigma of how cholesterol is transported within cells has been solved in these experimental mouse models and structural imaging studies by the discovery of the proteins Aster A, B and C, which serve as a molecular bridge for the transfer of cholesterol from the pl...

J Pediatr Endocrinol Metab 2019; 32(3): 253–258. DOI: 10.1515/jpem-2018-0342• 44,360 neonates were screened for CAH as part of a pilot screening programme in Beijing.• In this prospective study, a CAH incidence of 1:7393 was found, and the most common 21 OHase mutation was c.293-13C/A>G.The authors describe the results of a ...

To read the full abstract: Clinical Orthopaedics and Related Research. 476(11):2112–2122, 2018The century-long Fels Longitudinal Study of human growth and development aimed to track when growth plate fusion started and completed in children born as far back as 1915. Among 1292 children, each with between 1 to 30 serial left hand-wrist radiographs, children born in the 1990s reached ...

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...