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 article

2 Citations (Scopus)

Abstract

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
Volume44
DOIs
StatePublished - Oct 1 2017

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Hypogonadism
Kallmann Syndrome
Ovarian Hyperstimulation Syndrome
Primary Ovarian Insufficiency
Turner Syndrome
Polycystic Ovary Syndrome
Leiomyoma
Endometriosis
Gonadotropins
Steroids
Hormones
Serum
Genes
Mullerian aplasia

Keywords

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

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Genetic basis of eugonadal and hypogonadal female reproductive disorders. / Trofimova, Tatiana; Lizneva, Daria; Suturina, Larisa; Walker, Walidah; Chen, Yen-Hao; Azziz, Ricardo; Layman, Lawrence C.

In: Best Practice and Research: Clinical Obstetrics and Gynaecology, Vol. 44, 01.10.2017, p. 3-14.

Research output: Contribution to journalReview article

Trofimova, Tatiana ; Lizneva, Daria ; Suturina, Larisa ; Walker, Walidah ; Chen, Yen-Hao ; Azziz, Ricardo ; Layman, Lawrence C. / Genetic basis of eugonadal and hypogonadal female reproductive disorders. In: Best Practice and Research: Clinical Obstetrics and Gynaecology. 2017 ; Vol. 44. pp. 3-14.
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