ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Genet Med. 2019 Jan;21(1):233–242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...

To read the full abstract: Pediatrics. 2018;142(4). pii: e20181199.This unique study investigated the incidence of congenital hypothyroidism from the start of the newborn screening in 1979 to 2016. The authors report a marked increase in incidence from 0.27 cases per 1000 live births in 1979–1991 to 0.41 in 1992–2004 and 0.65 in 2005–2016.A major str...

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...