ESPE Yearbook of Paediatric Endocrinology

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...

Hum Reprod. 2021 Jun 18;36(7):1959–1969. 10.1093/humrep/deab039 https://academic.oup.com/humrep/article-abstract/36/7/1959/6179308?redirectedFrom=fulltextIn brief: This large prospective population-based pregnancy cohort study identifies an association between maternal stressful li...

Cell Metab. 2020 Dec 1;32(6):951–966.e8. 10.1016/j.cmet.2020.10.001. PMID: 33080217. https://www.sciencedirect.com/science/article/pii/S1550413120305349?via%3DihubIn brief: This study reveals the critical role of hypothalamic ceramide synthesis in the induction of precocious puberty in obe...

To read the full abstract: J Pediatr Gastroenterol Nutr. 2017;65:293-298Growth deceleration and impaired pubertal growth spurt are common concerns in patients with early onset inflammatory bowel disease (IBD) (1-2). Previous studies confirmed the efficacy and safety of infliximab, an anti-tumor necrosis factor alpha (TNF-α) antibody, in achieving clinical remission in luminal Crohn&#8...

To read the full abstract: EMBO Mol Med 2018;e9569:1–18TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...

To read the full abstract: N Engl J Med 2018;378:1987-1998FGF-23 is the primary regulator of phosphate homeostasis and acts by inhibiting phosphate reabsorption in the kidney (1). Loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog X-linked (PHEX) results in excess circulating FGF-23, which impairs renal phosphate reabsorption causing hypophosphatemia...

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(1): 118–126.Primary adrenal insufficiency (AI) is a major clinical manifestation in boys and men with X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative inborn error of metabolism readily diagnosed by detecting elevated plasma very-long-chain fatty acids (VLCFAs), in particular the ratios of C26:0/...

To read the full abstract: J Clin Endocrinol Metab 2017; 102(11):4080-4088GH influences the structure and function of the heart. Untreated GHD adults have a worse cardiometabolic disease risk profile characterized by altered body composition, unfavorable changes in metabolism, reduced left ventricular mass and cardiac output and decreased exercise capacity [25-26]. GH...

To read the full abstract: J Orthop Res 2018;36:138-148Dogs are growth biologists’ best friends – due to the broad intra-species variance in body size, canine breeds offer a unique opportunity to study genetic differences mainly affecting linear growth. In their previous publication, the authors found drastic differences between miniature and large dog breeds in known key regulators of th...

J Clin Endocrinol Metab 2021; 106(3):814–825.https://pubmed.ncbi.nlm.nih.gov/33236103/Here, the authors performed a randomized, 12-week, crossover study in order to assess cortisol metabolism during dual-release hydrocortisone (DR-HC) and conventional hydrocortisone (TID-HC) therapy in patients with primary adrenal insufficiency (n=50). Healthy controls (n=124) were i...