ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: JCI Insight 2018;3. pii: 99109The effects of kisspeptin administration in adults are well known. Whatever, the mode of administration, kisspeptin elicits an increase of LH and FSH blood levels in normal men and women. By analogy to rodents and non-human primates, it has been speculated that the response to kisspeptin is majorated at puberty in humans, which could be...

To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 6;9:148Pubertal onset and subsequently reproduction result from the awakening of a complex neuroendocrine machinery leading to the acceleration of the gonadotropin-releasing hormone (GnRH) secretion by the hypothalamus. Several neuronal, glial or peripheral factors have been identified as playing a major role in the onset of...

Hum Mol Genet. 2020 Dec 18;29(20): 3443–3450.https://pubmed.ncbi.nlm.nih.gov/33089319/The authors performed an experimental study in Kiss1 knock-out mice, followed by an observational study of patients with adrenal tumors. The findings indicate that KISS1/KISS1R signaling may be involved in obesity, metabolic disorders and even gonadal steroid hormone perturbations.<p class="abstex...

To read the full abstract: Journal of clinical endocrinology and metabolism vol. 105,8 (2020): dgaa162. doi: https://academic.oup.com/jcem/article/105/8/dgaa162/5813981This longitudinal study (n =16) suggests that responses to kisspeptin administration could predict later pubertal outcomes for patients with delayed puberty. The management of...

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<...