ESPE Yearbook of Paediatric Endocrinology

Diabetologia. 2021 Mar;64(3):630-640. doi: 10.1007/s00125-020-05346-7. PMID: 33404684.The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provided these authors a unique opportunity to study the molecular basis of CHI and to develop potential novel treatment options by screening...

Sudan J Paediatr 2021;21:53–60. doi: 10.24911/SJP.106-1588448825– This paper describes the characteristics of 156 children and adolescents with hypopituitarism from 2 hospitals in Sudan– Congenital causes (86.5%) were more prevalent than acquired causes (13.5%)– Consanguinity was found in 77.8% of patients overall and 91% of patients with congenital aetiologies. The...

Brief summary: This cross-sectional study provided evidence regarding the usefulness of serum IGF-1/IGFBP-3 ratio as a marker for the diagnosis of GHD in children.Diagnosis of growth hormone deficiency (GHD) is still challenging, due to the insufficient specificity of GH stimulation tests. Serum IGF-1, IGFBP-3, and their combination have been proposed as an alternative to GH stimulation tests. However, despite relatively high specificity, their validity ...

Int. J. Neonatal Screen 2020; 6: 76. doi: 10.3390/ijns6040076– CLAN (Caring and Living as Neighbours) is an Australian non-governmental organisation (NGO) committed to a rights-based approach to optimizing quality of life for children and young people living with CAH and other chronic health conditions in resource-limited settings– This paper used exploratory case study as a method t...

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz145. PMID: 31665349.Prenatal treatment with glucocorticoids (GC) is used in several clinical indications. However, the long-term outcome on offspring metabolic, somatic and cognitive health has raised significant concern. In rodents, high glucocorticoid levels inhibit development of beta cells during fetal life and lead to...

To read the full abstract: Cancer. 2017;123:4207-4214Metabolic syndrome and early cardiovascular disease are well-known long-term complications of cancer treatment during childhood, but the underlying causes are still unclear. It had been already demonstrated that the abnormalities of the immune system, that are characteristic of the elderly population, may become evident earlier in childhood cancer...

J Clin Invest. 2020 Dec 1;130(12):6338–6353. doi: 10.1172/JCI141455. PMID: 33164986.This manuscript describes a novel disorder due to homozygous mutations in the YIPF5 gene which cause a complex syndrome of neonatal/early onset diabetes mellitus, epilepsy and microcephaly. The underlying mechanism of the diabetes involves the accumulation of proinsulin (unable to be transported to the Golgi...

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplas...