ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Pediatr Obes. 2019 Dec;14(12):e12564. doi: 10.1111/ijpo.12564.In an experimental setting, the authors asked 53 adults to dispense infant milk formula powder for three servings of 2, 4, 6, and 8 fl oz (57, 113, 170 and 226 grams, respectively) bottles, in random order. Remarkably, only 19% of bottles contained the recommended amount of formula powder. The large majorit...

To read the full abstract: Science 2018;362(6416) eaau5324The hypothalamus is a highly complex region, which receives many inputs from several other brain regions and also from the periphery. It is the site of synthesis of many neuropeptides that act as neurotransmitters or via the systemic circulation (in blood). Hypothalamic nuclei are typically defined by their exact anatomical locati...

To read the full abstract: BMJ Open. 2019;9:e024705.This protocol paper describes an innovative phase II trial to study the effect of a single low dose of adjuvant rituximab (a chimeric anti-B-cell monoclonal antibody targeting the surface molecule CD20) compared to classical carbimazole therapy in adolescents and young adults with Graves’ disease. Carbimazole treatment will be stop...

Eur Thyroid J. 2018;7:225-37. doi: 10.1159/000491388. Epub 2018 Jul 19https://www.ncbi.nlm.nih.gov/pubmed/30374425Diagnosis and treatment of central hypothyroidism are much more complex than for primary hypothyroidism. For the first time, guidelines summarize all the available evidence to provide a thorough state of...

J Clin Endocrinol Metab. 2019 Feb. doi: 10.1210/jc.2018-02288. [Epub ahead of print]Short stature is the most common reason for referral to pediatric endocrinologists. Familial short stature (FSS) is used to describe a child with a stature below the normal but within the parental target range and with at least one short parent.In the last years, there has been a widesp...

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1160–1170.doi: 10.1210/jc.2018-01866. PubMed PMID: 30388241This retrospective single center study from Brazil assessed the possible effects of prenatal androgen exposure, degree of virilization of the external genitalia, sex of rearing and diagnosis of DSD on later psychosexual outcomes (including gender identity, gender ...

To read the full abstract: Am J Med Genet A. 2019; 179(7):1205–1213.X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, with an estimated incidence in the USA of ~1:17,000 all births (male and female) and 1:21,000 male births. X-ALD is caused by mutations in the X chromosome gene ABCD1, which encodes the peroxisomal membrane protein, ATP-bin...

To read the full abstract: Pediatr Blood Cancer. 2018; 65(11): e27304.Observational studies in large cohorts of cancer survivors have reported that cancer survivors exposed to abdominal radiation have an increased risk of both insulin-dependent and non-insulin-dependent diabetes mellitus, with a prolonged latency between radiation exposure and diabetes onset. The irradiation of the pancr...

To read the full abstract: Endocrine. 2018 Jul; 61(1):76Hematopoietic stem cell transplantation (HSCT) is a curative treatment for life-threatening malignancies. However, late HSCT adverse effects cause substantial morbidity among long-term survivors. Metabolic complications, such as diabetes mellitus and hyperlipidemia, are the major late effects of pediatric HSCT, but the pathogenesis ...

To read the full abstract: JAMA Network Open 2018;1:e185275The authors describe a small case series of four patients, age range 18–28 years, with Prader-Willi syndrome and obesity. All had received childhood growth hormone therapy, two had previous bariatric surgery, and all had psychiatric comorbidities before the current intervention. All received deep brain stimulation, via elect...