ESPE Yearbook of Paediatric Endocrinology

IntroductionThis year clinical studies explored further some persistent questions regarding the challenges of diagnosing precocious or delayed puberty. Studies also explored further the genetic architecture of pathological puberty and identified rare new variants explaining central precocious puberty as well as common variants participating to constitutional delay of growth and puberty. The studies summarized in this chapter underline the future importan...

J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa247. 10.1210/clinem/dgaa247. https://pubmed.ncbi.nlm.nih.gov/32407531/Based on a structured summary of a case series of 43 well-defined patients, these authors propose for regular screening and preventive examinations in ROHHAD patients and list the therapeutic options. Although these recommendat...

Introduction: This year, cohort studies have brought new insights regarding prepubertal and pubertal markers of future gonadal function and illustrated further the influence of physical activity on puberty timing. Basic studies have identified new candidate genes for congenital hypogonadotropic hypogonadism such as jagged-1 and NOS1. They also exposed new data illustrating the role of MKRN3 as a factor involved in progressive plastic changes rather than a sudden switch of pube...