ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study identifies the role of the Dlk1 gene dosage in controlling the size of the pituitary gland. Dlk1 is an imprinted gene—expression is based on parental origin—which plays a critical role in determining pituitary gland size.The authors investigated how varying the dosage of Dlk1 affects pituitary size using genetically modified mice. Elegantly both, loss-of-function and overexpression of Dlk...

Brief Summary: This elegant study analysed a phenotype-driven screen for developmental lethal mouse genes to identify candidate genes that drive hypothalamo-pituitary phenotypes.The authors used a publicly-available phenotype-driven screen, performed by the mouse models phenotyping facility at the DMDD Wellcome Sanger Institute, to identify key genes important in pituitary development. High-Resolution Episcopic Microscopy (HREM) from 209 knockout lines w...

Brief Summary: This study provides an in-depth exploration of the genetic underpinnings and clinical phenotypes associated with congenital hypopituitarism (CH) and related disorders. The authors analyse a large cohort (1765 patients) with or at risk of CH from 1563 unrelated families by Sanger, whole exome (WES) or whole genome sequencing (WGS). Genetic variants were identified in 10% of the CH cohort.CH is characterized by the insufficient pro...

Brief Summary: This study provides evidence for the role of miR-137/325 in obesity-induced hypogonadism (OIH) and metabolic dysfunction.Obesity is associated with different forms of gonadal and reproductive dysfunction, including central male hypogonadism (1, 2). Although weight loss is the ideal therapeutic strategy for patients with OIH, significant weight loss is usually difficult to achieve only with lifestyle changes. Hence, androgen administration ...

Brief Summary: This study significantly advances our understanding of the genetic underpinnings of congenital hypopituitarism (CH) by utilizing whole exome sequencing (WES) in a large cohort of patients from Argentina.CH is a complex and highly heterogeneous disorder that is associated with highly variable clinical phenotypes that range in severity (1). The aetiology of CH may extend beyond monogenic causes, involving oligogenic, polygenic, or multifacto...