Genetic basis of eugonadal and hypogonadal female reproductive disorders

Tatiana Trofimova, Daria Lizneva, Larisa Suturina, Walidah Walker, Yen Hao Chen, Ricardo Azziz, Lawrence C. Layman

Research output: Contribution to journalReview articlepeer-review

10 Scopus citations


This review discusses the current state of our understanding regarding the genetic basis of the most important reproductive disorders in women. For clarity, these disorders have been divided into eugonadal and hypogonadal types. Hypogonadal disorders have been further subdivided according to serum gonadotropin levels. Our review focuses on historical and recent data regarding the genetics of the hypothalamic–pituitary–gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation syndrome, polycystic ovarian syndrome, mullerian aplasia, and steroid hormone resistance syndromes. We discuss the known genes most commonly involved in hypergonadotropic hypogonadism (Turner syndrome and premature ovarian failure) and hypogonadotrophic hypogonadism (Kallmann syndrome and normosmic types). In addition, we summarize the current clinical testing approaches and their utility in practical application.

Original languageEnglish (US)
Pages (from-to)3-14
Number of pages12
JournalBest Practice and Research: Clinical Obstetrics and Gynaecology
StatePublished - Oct 2017


  • Kallmann syndrome
  • Mullerian aplasia
  • OHSS
  • PCOS
  • POF
  • endometriosis
  • fibroids
  • hypogonadism

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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