ESPE Yearbook of Paediatric Endocrinology

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...

J Clin Endocrinol Metab. 2020;105(10):dgaa491. doi: 10.1210/clinem/dgaa510. PMID: 32816013This study describes the clinical characteristics of an extended family with novel NPR2 mutations. The family was an Ashkenazi Jewish family with no history of consanguinity and included two sisters with compound heterozygous NPR2 missense mutations causing acromesomelic dysplasia Mar...

To read the full abstract: Diabetes Care. 2019;42(9):1816–23. doi: 10.2337/dc19-0430Short summary: In this longstanding cohort study (n =1718), high intraindividual variability over time in BMI and in HDL-C during childhood, independent of their mean levels, conferred an increased risk of later-life diabetes.Comment: Intraindividual variabil...

The Journal of Clinical Endocrinology & Metabolism, 2021, Vol. 106, No. 9, e3634–e3643PMID: 33950234Brief Summary: This trial explored the effects of rhGH treatment in patients with Prader-Willi syndrome (PWS) on respiratory and sleep parameters. The trial was randomized and placebo-controlled for 1 year, followed by a 2-year, open-phase GH treatment period. Polysomnography performed every 6 months revealed no adverse effects of rhGH tr...

To read the full abstract: Nat Med. 2017 Dec; 23(12): 1444–1453This study highlights the importance of asprosin in the regulation of appetite. This peptide hormone was first described by Romere et al. in 2016 (1), who reported 2 patients with neonatal progeroid syndrome (NPS) due to truncating heterozygous mutations in the fibrillin-gene (FBN1). The FBN1 gene encodes profibrillin wh...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(8): 2998–3009.Conventional glucocorticoid (GC) therapy in adrenal insufficiency (AI) does not fully mimic the endogenous cortisol circadian rhythm, and this may adversely affect long-term health. In the recent DREAM trial (Dual Release Hydrocortisone vs. Conventional Glucocorticoid Replacement in H...

To read the full abstract: Thyroid. 2019;29:480–492.The thyroid axis is particularly responsive to critical illness. Adaptation processes of the thyroid axis to critical illness and prolonged fasting are well described as non-thyroidal illness syndrome. Non-thyroidal illness is mainly explained by two mechanisms: 1) peripheral inactivation of T4 to rT3 by decreased type-1 deiodinase...

To read the full abstract: Disease Models & Mechanisms vol. 13,3 dmm040105. 13 Mar. 2020. doi: https://dmm.biologists.org/content/13/3/dmm040105.longThese authors developed an in vitro model to study human GnRH neuron transcriptome during developmental differentiation. Gonadotropin-releasing hormone (GnRH) neurons in the hypothalamus govern t...

J Clin Endocrinol Metab. 2021; 106(2): e957–e965.https://pubmed.ncbi.nlm.nih.gov/33135723/The authors investigated the reproductive and perinatal outcomes in women with congenital adrenal hyperplasia (CAH) compared with control women in the largest such population-based study to date. Women with CAH had lower birth rates, were more likely to develop gestational diabetes, and had other ...

Obesity (Silver Spring) 2020 Aug;28(8):1512–1518. https://pubmed.ncbi.nlm.nih.gov/32935936/These authors analysed a cohort of n=399 overweight and obese children (age 2–12 years), who underwent a 1-year lifestyle intervention, to test whether possible alternatives to the BMI z-score (%BMIp95, %BMIp50, BMImz) might correlate better with changes in % total body fat (%BF) a...