ESPE Yearbook of Paediatric Endocrinology

Clin Endocrinol Metab. 2021;106(2):431–441. doi: 10.1210/clinem/dgaa842. PMID: 33205215This study aimed to describe the clinical characteristics of 6 patients with NPR2 gene mutations and the response to rhGH treatment in 2 of them.The natriuretic peptide receptor 2 gene (NPR2) is a paracrine factor involved in the regulation of cell proliferati...

To read the full abstract: Elife 2019;8:e43999.Two populations of Kisspeptin neurons are described in the hypothalamus. One population is located in the rostral part of the hypothalamus (the anteroventral periventricular nucleus, AVPV); the other is in the arcuate nucleus (ARC). The major difference between these populations is the opposing effects of 17b-estradiol (E2) on Kiss1...

To read the full abstract: Front Endocrinol (Lausanne) 2017;8:170Increasing sedentary behaviours and availability of high energy dense processed foods are the obvious culprits to explain the trends towards more overweight and obese populations around the world. However, we should remember that many other hypotheses are proposed, including higher ambient room temperatures due to ce...

Epigenomics. 2021 Aug;13(15):1221-1230. doi: 10.2217/epi-2021-0096. PMID: 34337972.Brief Summary: This case cohort study assessed whether epigenetic factors explain the link between gestational diabetes mellitus (GDM) and macrosomia. Epigenetic changes in the MEST gene were associated with both GDM and macrosomia.GDM leads to neonatal macrosomia and in the long-t...

To read the full abstract: Nat Commun 2019;10:163.Central estrogen signaling via estrogen receptor alpha (ERα) coordinates energy expenditure, reproduction and, in concert with peripheral estrogen, impacts skeletal homeostasis. Here, the authors showed that eliminating ERα in kisspeptin arcuate nucleus neurons resulted in high bone mass phenotype in female mice only.<p clas...

To read the full abstract: PLoS Med. 2019 Oct 1;16(10):e1002926. doi: 10.1371/journal.pmed.1002926.The authors analysed a huge dataset from the Chinese national programme of preconception health checks, which include measurements of fasting plasma glucose. Overall, 13.15% (n =847,737) had impaired fasting glucose and 1.18% (n =76,297 women) had diabetes, of whom only...

To read the full abstract: Science 2019;365:386–392.By genetically engineering mice, the authors deleted the enzyme dihydroceramide desaturase 1 (DES1), which normally inserts a conserved double bond into the backbone of ceramides. Ablation of DES1 from whole animals or tissue-specific deletion in the liver and/or adipose tissue resolved hepatic steatosis and insulin resistance in mice caused by leptin deficiency or obesogenic diets<p c...

Short summary: This study examined ex vivo the function of the sperm-specific CatSper-channel in almost 2300 men undergoing investigation for infertility. In 9 infertile men with normal semen analysis but pathologic sperm motility, biallelic variants in genes forming the CatSper-channel were found, either in CATSPER2 or CATSPERE. These men and their partners failed to conceive naturally and medically assisted reproduction (MAR) was successful only via intracytoplasmic...