Defects in Ovarian Steroid Hormone Biosynthesis

Jerome F. Strauss, Bhavi Modi, Jan M. McAllister

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The ovary secretes steroid hormones that initiate female sexual development, program the secretion of gonadotropins from the hypothalamic-pituitary axis, and regulate the function of the female reproductive tract. The synthesis of bioactive steroid hormones involves a compartmentalized process within steroidogenic cells in which cholesterol is moved through organelles that modify the sterol backbone and side-chain. Collaborative interactions among steroidogenic cell types, particularly theca and granulosa cells and their luteinized forms, govern the secretion of ovarian androgens, progestins and estrogens. Rare mutations in the genes encoding gonadotropin receptors and steroidogenic enzymes impair steroid hormone production and result in disordered gonadotropin secretion and, consequently, defects in follicular growth and development and ovulation. Polycystic ovary syndrome, a common endocrine disease of women in reproductive age, is associated with abnormal expression of steroidogenic enzymes, also leading to abnormal follicular maturation. This chapter reviews the mutations and genetic variants that alter human ovarian steroidogenesis and the resulting phenotypes.

Original languageEnglish (US)
Title of host publicationCellular Endocrinology in Health and Disease
PublisherElsevier Inc.
Pages285-309
Number of pages25
ISBN (Print)9780124081345
DOIs
StatePublished - May 2014

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Steroid hormones
Biosynthesis
Steroids
Hormones
Gonadotropins
Defects
Gonadotropin Receptors
Theca Cells
Pituitary Gonadotropins
Endocrine System Diseases
Mutation
Sexual Development
Gene encoding
Granulosa Cells
Polycystic Ovary Syndrome
Sterols
Progestins
Enzymes
Ovulation
Growth and Development

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Strauss, J. F., Modi, B., & McAllister, J. M. (2014). Defects in Ovarian Steroid Hormone Biosynthesis. In Cellular Endocrinology in Health and Disease (pp. 285-309). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-408134-5.00018-4
Strauss, Jerome F. ; Modi, Bhavi ; McAllister, Jan M. / Defects in Ovarian Steroid Hormone Biosynthesis. Cellular Endocrinology in Health and Disease. Elsevier Inc., 2014. pp. 285-309
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Strauss, JF, Modi, B & McAllister, JM 2014, Defects in Ovarian Steroid Hormone Biosynthesis. in Cellular Endocrinology in Health and Disease. Elsevier Inc., pp. 285-309. https://doi.org/10.1016/B978-0-12-408134-5.00018-4

Defects in Ovarian Steroid Hormone Biosynthesis. / Strauss, Jerome F.; Modi, Bhavi; McAllister, Jan M.

Cellular Endocrinology in Health and Disease. Elsevier Inc., 2014. p. 285-309.

Research output: Chapter in Book/Report/Conference proceedingChapter

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Strauss JF, Modi B, McAllister JM. Defects in Ovarian Steroid Hormone Biosynthesis. In Cellular Endocrinology in Health and Disease. Elsevier Inc. 2014. p. 285-309 https://doi.org/10.1016/B978-0-12-408134-5.00018-4