ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Journal of Clinical Endocrinology and Metabolism vol. 105,8 (2020): dgaa135. doi: https://academic.oup.com/jcem/article/105/8/dgaa135/5807960This meta-analysis of 22 studies, comprising in total 21 801 individuals, evaluates the accuracy of self-assessment of pubertal stage by the patient him/herself, given the many challenges in obtaining cl...

Brief Summary: this case-control study shows that the common genetic variants that influence pubertal timing in the general population also contribute to constitutional delay of puberty (CDP) and less significantly to normosmic idiopathic hypogonadotropic hypogonadism (IHH).CDP and IHH are two different conditions that are notoriously difficult to distinguish clinically on initial presentation. Because CDP has clear heritability traits1, and h...

Brief Summary: this large patient cohort study identified an overrepresentation of functionally damaging variants in MC3R in individuals with constitutional delay of growth and puberty but not in patients with IHH.Melanocortin 3 receptor (MC3R) is a permissive signal expressed by hypothalamic kisspeptin-neurokinin B-dynorphin (KNDY) neurons. It activates puberty through the leptin-proopiomelanocortin pathway in response to nutritional signaling<...