Aromatase deficiency and estrogen resistance: From molecular genetics to clinic

S. E. Bulun*

*Corresponding author for this work

Research output: Contribution to journalReview article

29 Scopus citations

Abstract

Our knowledge of the physiologic roles of estrogen in women and men has been advanced by recent descriptions of mutations disrupting estrogen biosynthesis and action. Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19 gene. It gives rise to ambiguous genitalia in 46,XX individuals. At puberty, affected girls have hypergonadotropic hypogonadism, fail to develop secondary sexual characteristics, and exhibit progressive virilization. The affected 46,XY individuals have normal male sexual differentiation and pubertal maturation. These men are extremely tall and have eunuchoid proportions with continued linear growth into adulthood, lack of epiphyseal closure, and osteoporosis due to estrogen deficiency. Although estrogen was shown to be essential for normal sperm production and function in mice, its role infertility is not clear in men. Thus far, one estrogen-resistant human, a man with a mutant estrogen receptor-α gene, has been described. His clinical presentation was similar to that of aromatase-deficient men.

Original languageEnglish (US)
Pages (from-to)31-39
Number of pages9
JournalSeminars in reproductive medicine
Volume18
Issue number1
DOIs
StatePublished - 2000

Keywords

  • Aromatase deficiency
  • Estrogen resistance
  • Mutation

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Reproductive Medicine
  • Endocrinology
  • Obstetrics and Gynecology
  • Physiology (medical)

Fingerprint Dive into the research topics of 'Aromatase deficiency and estrogen resistance: From molecular genetics to clinic'. Together they form a unique fingerprint.

  • Cite this