The genetic basis of female reproductive disorders: Etiology and clinical testing

Research output: Contribution to journalReview article

26 Citations (Scopus)

Abstract

With the advent of improved molecular biology techniques, the genetic basis of an increasing number of reproductive disorders has been elucidated. Mutations in at least 20 genes cause hypogonadotropic hypogonadism including Kallmann syndrome in about 35-40% of patients. The two most commonly involved genes are FGFR1 and CHD7. When combined pituitary hormone deficiency includes hypogonadotropic hypogonadism as a feature, PROP1 mutations are the most common of the six genes involved. For hypergonadotropic hypogonadism, mutations in 14 genes cause gonadal failure in 15% of affected females, most commonly in FMR1. In eugonadal disorders, activating FSHR mutations have been identified for spontaneous ovarian hyperstimulation syndrome; and WNT4 mutations have been described in mullerian aplasia. For other eugonadal disorders, such as endometriosis, polycystic ovary syndrome, and leiomyomata, specific germline gene mutations have not been identified, but some chromosomal regions are associated with the corresponding phenotype. Practical genetic testing is possible to perform in both hypogonadotropic and hypergonadotropic hypogonadism and spontaneous ovarian hyperstimulation syndrome. However, clinical testing for endometriosis, polycystic ovary syndrome, and leiomyomata is not currently practical for the clinician.

Original languageEnglish (US)
Pages (from-to)138-148
Number of pages11
JournalMolecular and Cellular Endocrinology
Volume370
Issue number1-2
DOIs
StatePublished - May 6 2013

Fingerprint

Hypogonadism
Genes
Mutation
Ovarian Hyperstimulation Syndrome
Testing
Polycystic Ovary Syndrome
Leiomyoma
Endometriosis
Kallmann Syndrome
Genetic Techniques
Molecular biology
Pituitary Hormones
Germ-Line Mutation
Genetic Testing
Molecular Biology
Phenotype

Keywords

  • Endometriosis
  • Genetics of hypogonadism
  • Leiomyomata
  • Mullerian aplasia
  • Polycystic ovary syndrome
  • Spontaneous ovarian hyperstimulation syndrome

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Endocrinology

Cite this

The genetic basis of female reproductive disorders : Etiology and clinical testing. / Layman, Lawrence C.

In: Molecular and Cellular Endocrinology, Vol. 370, No. 1-2, 06.05.2013, p. 138-148.

Research output: Contribution to journalReview article

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