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- Title
Pubertal Onset in Girls is Strongly Influenced by Genetic Variation Affecting FSH Action.
- Authors
Hagen, Casper P.; Sørensen, Kaspar; Aksglaede, Lise; Mouritsen, Annette; Mieritz, Mikkel G.; Tinggaard, Jeanette; Wohlfart-Veje, Christine; Petersen, Jørgen Holm; Main, Katharina M.; Rajpert-De Meyts, Ewa; Almstrup, Kristian; Juul, Anders
- 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 -29GG1GA, p50.003. To our knowledge, this is the strongest genetic effect on age at pubertal onset in girls published to date.
- Subjects
HUMAN genetic variation; AGE; PUBERTY -- Physiological aspects; FOLLICLE-stimulating hormone; OVARIAN follicle; ESTRADIOL
- Publication
Scientific Reports, 2014, p1
- ISSN
2045-2322
- Publication type
Article
- DOI
10.1038/srep06412