GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.

European Journal of Endocrinology
Stephanie A Roberts, Ursula B Kaiser

Abstract

Pubertal timing is regulated by the complex interplay of genetic, environmental, nutritional and epigenetic factors. Criteria for determining normal pubertal timing, and thus the definition of precocious puberty, have evolved based on published population studies. The significance of the genetic influence on pubertal timing is supported by familial pubertal timing and twin studies. In contrast to the many monogenic causes associated with hypogonadotropic hypogonadism, only four monogenic causes of central precocious puberty (CPP) have been described. Loss-of-function mutations in Makorin Ring Finger Protein 3(MKRN3), a maternally imprinted gene on chromosome 15 within the Prader-Willi syndrome locus, are the most common identified genetic cause of CPP. More recently, several mutations in a second maternally imprinted gene, Delta-like noncanonical Notch ligand 1 (DLK1), have also been associated with CPP. Polymorphisms in both genes have also been associated with the age of menarche in genome-wide association studies. Mutations in the genes encoding kisspeptin (KISS1) and its receptor (KISS1R), potent activators of GnRH secretion, have also been described in association with CPP, but remain rare monogenic causes. CPP has both sh...Continue Reading

Citations

Mar 8, 2021·Pediatrics and Neonatology·Yi-Ching Tung
Nov 7, 2020·International Journal of Molecular Sciences·Régine P M Steegers-TheunissenKevin D Sinclair
Aug 28, 2021·International Journal of Molecular Sciences·Laura GaspariSamir Hamamah
Sep 25, 2021·Seminars in Reproductive Medicine·Aviva B SopherSelma F Witchel
Oct 12, 2021·Frontiers in Endocrinology·Vassos NeocleousLeonidas A Phylactou

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