ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Science 2019;363(6424).A wide range of human diseases result from haploinsufficiency, where gene expression is decreased as compared to normal conditions. Haploinsufficiency is a typical mechanism in autosomal dominant disorders. Rare mutations in Sim1 or Mc4r are models of haploinsufficiency causing severe early-onset obesity with hyperphagia...

To read the full abstract: Thyroid. 2019;29:595–606.Here, ultrastructural analysis of primary cilia in human thyroid follicles revealed a direct relationship between frequency and length of primary cilia and the functional state of the individual follicle in normal compared to hyperfunctioning thyroid tissues.Primary cilia are present in many different tissues...

To read the full abstract: Endocrinology. 2019;160:1363–1376.Pregnancy-associated plasma protein A2 (PAPP-A2) is a metalloproteinase which, by cleaving IGFBP-3 and IGFBP-5, releases free IGF-I from the ternary complexes and regulates its bioavailability. PAPPA2 gene mutations (p.D643fs25* and p.Ala1033Val) have recently been described in various members of two unrelated fam...

Abstract: FASEB J. 2019;33:4962–4974.In brief: Glucocorticoid-induced growth impairment is reverted by the mitochondrial peptide humanin in dexamethasone-treated mice without attenuation of anti-inflammatory effects.Comment: Humanin (HN) is a 24 aminoacid peptide that was originally discovered as a neuroprotective factor and later shown ...

J Clin Endocrinol Metab. 2019 Feb 1;104(2):390–396.doi: 10.1210/jc.2018-01105. PubMed PMID: 30247609.Polymorphisms in sex hormone genes have been described in gender dysphoric individuals with inconsistent findings. In this case-control study of 380 trans women and 344 control males, functional variants in 12 sex hormone signaling genes were studied. Significant a...

To read the full abstract: Psychoneuroendocrinology. 2018; 97: 156–163.Anxiety disorders are common in childhood and adolescence and the transition from childhood to adolescence seems to be a vulnerable period for the development of anxiety symptoms. This article elucidates the impact of androgens (DHEA, DHEAS and testosterone) on functional connectivity of the amygdala while ...

To read the full abstract: Lancet Diabetes and Endocrinology 2018; 6: 114–121Cystic fibrosis (CF)-related diabetes (CFRD) impacts significantly on mortality and quality of life. Impaired glucose metabolism and CFRD are associated with poor weight and height gain and impaired lung function in children and adolescents (1). In that study, height and weight were lower in CF patients wit...

To read the full abstract: Int J Obes 2019; 43(2): 384–91Studies regarding brown adipose tissue (BAT) activity in children are scarce due to the difficulties in detecting BAT by imaging and the need for elaborate techniques to measure BAT activity. Here, prepubertal children born small for gestational age (SGA, n=41) and children born appropriate for gestational age (AGA, <...

To read the full abstract: Development 2017;144:3289-3302Aberrant development of the anterior pituitary can lead to congenital hypopituitarism (CH) in humans and hence understanding how this organ develops is critical to understand CH. The anterior pituitary develops in intimate contact with the prospective hypothalamus, which secretes growth factors that are required for the pituitary gland to grow...

To read the full abstract: J Clin Endocrinol Metab 2018;103:2009-2015Thyroid cancer in children and adolescents has a higher rate of regional and distant metastases, and recurrence rate than in adults. However, little is known about the molecular origin of thyroid carcinoma in children. DICER1 encodes for an endoribonuclease responsible for processing RNA into s...