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Minerva Pediatrics 2021 Jul 15

DOI: 10.23736/S2724-5276.21.06511-3

Copyright © 2021 EDIZIONI MINERVA MEDICA

language: English

Biological clock and heredity in pubertal timing: what is new?

Flavia BARBIERI 1, Elena INZAGHI 2, Manuela CARUSO NICOLETTI 3, Alessandra CASSIO 4, Anna GRANDONE 5, Luisa DE SANCTIS 6, Carla BIZZARRI 7

1 Pediatric Section, Department of translational Medical Sciences, Federico II University of Naples, Naples, Italy; 2 Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; 3 Pediatric Endocrinology Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy; 4 Pediatric Unit, Department of Medical and Surgical Sciences, S.Orsola-Malpighi University Hospital, Bologna, Italy; 5 Departement of Women's and Children's Health and General and Specialized Surgery, University of Campania Luigi Vanvitelli, Napoli, Italy; 6 Pediatric Endocrinology Unit, Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy; 7 Unit of Endocrinology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy


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Puberty represents a milestone during a person’s life and is characterized by several physical and psychological changes which end with the achievement of sexual maturation and of fertility. Puberty onset depends on a series of sophisticated, not completely understood, mechanisms certainly involving Gonadotropin-Releasing Hormone (GnRH) and its effects on pituitary gonadotropins. As recent evidence has demonstrated that pubertal timing deeply affects future adult health life, much efforts have been performed in order to clarify the exact actors involved in the onset and progression of puberty. Genetic factors are undoubtedly essential players in the regulation of pubertal development, accounting for approximately 50-80% of its variability. Mutations in genes such as KISS1, MKRN3 and DLK1 have been associated with central precocious puberty. Interestingly, a possible involvement of epigenetic mechanisms has been proposed as additional element able to affect pubertal phase. Environmental factors have recently attracted much attention. Indeed, an overall decrease in the age of puberty has been observed in the last decades. As genetic factors require long time to exert their effect, other players, such as environmental ones, may be involved. Special focus has been posed on nutritional status, endocrine-disrupting chemicals with non-conclusive results. Pubertal timing deeply affects future life, suggesting the need to clarify mechanisms driving pubertal onset and progression, in order to identify tailored therapeutic strategies and targets.


KEY WORDS: Puberty; Endocrine disruptors; Genetics; Epigenetics; Environment

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