Journal of Endocrinological Investigation

, Volume 34, Issue 3, pp 244–251 | Cite as

Genetic defects of ovarian TGF-β-like factors and premature ovarian failure

Review Article


Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles; POF affects approximately 1–2% of women under the age of 40 yr, thus representing one major cause of female infertility. POF relevance is continuously growing because women tend to conceive always more frequently beyond 30 yr. Frequently, POF is the end-stage of an occult process [primary ovarian insufficiency (POI)]. POI is a heterogeneous disease caused by a variety of mechanisms. Though the underlying cause remains unexplained in the majority of cases, several data indicate that POI has a strong genetic component. These data include the existence of several causal genetic defects in human, experimental, and natural models, as well as the frequent familiarity. The candidate genes are numerous, but POF remains unexplained in most of the cases. Several recent evidences have driven the attention of researchers on the possible involvement of various elements belonging to the transforming growth factor β family, which includes bone morphogenetic proteins, growth/differentiation factors, and inhibins. These peptides are produced by either the oocyte or granulosa cells to constitute a complex paracrine network within the ovarian follicle. Here, we review the studies reporting the genetic alterations of these factors in human and animal defects of ovarian folliculogenesis which support the fundamental roles played by these signals in ovarian morphogenesis and function.


BMP15 female reproduction folliculogenesis GDF9 menopause oocyte ovary premature ovarian failure (POF) primary ovarian insufficiency (POI) 


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Copyright information

© Italian Society of Endocrinology (SIE) 2011

Authors and Affiliations

  • L. Persani
    • 1
    • 2
  • R. Rossetti
    • 1
  • C. Cacciatore
    • 1
    • 2
  • S. Fabre
    • 3
  1. 1.Dipartimento Scienze MedicheUniversità di Milano, Laboratorio di Ricerche Endocrinologiche, IRCCS Istituto Auxologico ItalianoCusano MilanItaly
  2. 2.Endocrinology UnitFondazione IRCCS Ca’ Granda PoliclinicoMilanItaly
  3. 3.UMR 85 INRA, UMR 6175 CNRSUniversity of Tours, Haras Nationaux, Physiologie de la Reproduction et des ComportementsNouzillyFrance

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