Pubertal Onset in Girls is Strongly Influenced by Genetic Variation Affecting FSH Action

Casper P Hagen, Kaspar Sørensen, Lise Aksglaede, Annette Mouritsen, Mikkel G Mieritz, Jeanette Tinggaard, Christine Wohlfahrt-Veje, Jørgen Holm Petersen, Katharina M. Main, Ewa Rajpert-De Meyts, Kristian Almstrup, Anders Juul

26 Citations (Scopus)

Abstract

Age at pubertal onset varies substantially in healthy girls. Although genetic factors are responsible for more than half of the phenotypic variation, only a small part has been attributed to specific genetic polymorphisms identified so far. Follicle-stimulating hormone (FSH) stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. We assessed the effect of three polymorphisms influencing FSH action on age at breast deveopment in a population-based cohort of 964 healthy girls. Girls homozygous for FSHR -29AA (reduced FSH receptor expression) entered puberty 7.4 (2.5-12.4) months later than carriers of the common variants FSHR -29GG+GA, p = 0.003. To our knowledge, this is the strongest genetic effect on age at pubertal onset in girls published to date.

Original languageDanish
Article number6412
JournalScientific Reports
Volume4
Pages (from-to)1-6
Number of pages6
ISSN2045-2322
Publication statusPublished - Sept 2014

Cite this