ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol. 2018;89:56–64.McCune Albright syndrome (MAS) is a rare disorder caused by somatic gain-of-function mutations of the GNAS gene [1]. This gene encodes the α-subunit of the Gs protein and its mutations are responsible for persistent stimulation of adenylyl cyclase and dysregulated production of cyclic AMP leading to persistent o...

J Clin Endocrinol Metab. 2018 Oct 1;103(10):3748–3756.doi: 10.1210/jc.2018-00769. PubMed PMID: 30113650This case report describes a 16 year old girl with 46,XX karyotype, no pubertal development and streak gonads. The girl was 150 cm tall and had closed epiphyses and osteoporosis. Genetic investigation by whole exome sequencing showed a loss-of-function mutation i...

To read the full abstract: J Endocr Soc. 2018; 3(1): 250–263.Prenatal treatment with dexamethasone (DEX) has been used to avoid virilization in girls with Congenital Adrenal Hyperplasia (CAH). However, it has potential short- and long-term risks and has been associated with cognitive impairments. Here, the authors investigate whether epigenetic modification of DNA during early devel...

To read the full abstract: Sci Rep. 2019 Apr 30; 9(1): 6691.In recent years, improved knowledge of the metabolic risks in childhood cancer survivors (CCS) has increasingly focused research on modifiable factors and preventive strategies (1–2). It is well known that therapeutic irradiation can cause detrimental changes in body composition, but it is still unknown whether the specific...

To read the full abstract: Stem Cell Res Ther. 2018 Nov 21; 9 (1):317Spermatogonial stem cell transplantation (SSCT) could become a fertility restoration tool for childhood cancer survivors. However, the colonization efficiency of transplanted spermatogonial stem cells (SSCs) in animal models is about 12%, and the effectiveness of this procedure needs to be improved before clinical imple...

To read the full abstract: J Pediatr. 2018 Jul;198:260–264This study aimed to analyze growth hormone (GH) doses and first-year growth response in prepubertal patients with the combination of type 1 diabetes (T1D) and growth hormone deficiency (GHD).A total of 69 patients with T1D and GHD treated with GH have been enrolled in KIGS (Pfizer International Growth D...

To read the full abstract: Nature 2017;548:52-57The central nervous system contributes to ageing. The hypothalamus seems to be particularly important in this process. Recent studies have demonstrated a link between ageing and a decrease of neurogenesis in the hippocampus and the subventricular zone of the lateral ventricle in the brain. Neural stem/progenitor cells (NSC) reside in those regions in ...

To read the full abstract: Nat Rev Endocrinol 2018;14:301-316The authors provide complete information as far as available on the prevalence of hypothyroidism, hyperthyroidism and iodine deficiency all over the world. Nutritional iodine is a key determinant of thyroid disease risk. Further factors influencing thyroid disease prevalence are smoking, ageing, genetic susceptibility, and endo...

To read the full abstract: J Pediatr 2018; 198: 260-264The incidence of T1DM in children <15 years is increasing at an overall annual relative rate of 3.9% (95% CI 3.6-4.2) [11]. The prevalence of GHD is estimated at approximately 1:4000 to 1:10000 [12-14]. Management of the very rare patients who have both T1DM and GHD raises questions of efficacy and safety of ...

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(6):2336-2345Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol production in the adrenal cortex. Classic CAH represents the most common cause of primary adrenal insufficiency in childhood (10). Infant mortality in patients with CAH has decreased since the advent of...