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Recognizing rare disorders: aromatase deficiency.

Margaret E E Jones1, Wah Chin Boon, Kerry McInnes

  • 1Prince Henry's Institute of Medical Research, PO Box 5152 Clayton, VIC 3168, Australia. margaret.jones@princehenrys.org

Nature Clinical Practice. Endocrinology & Metabolism
|April 25, 2007
PubMed
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Aromatase deficiency, a rare condition, prevents estrogen synthesis, leading to virilization in female infants and distinct symptoms in males. Estrogen replacement therapy effectively reverses these effects in both sexes.

Area of Science:

  • Endocrinology
  • Human Genetics
  • Reproductive Biology

Background:

  • Aromatase deficiency is a rare genetic disorder impacting estrogen synthesis.
  • The enzyme aromatase converts androgens to estrogens, crucial for fetal development and pubertal maturation.
  • Mutations in the aromatase gene lead to a lack of functional enzyme, causing significant health issues.

Purpose of the Study:

  • To summarize the clinical presentation and diagnosis of aromatase deficiency.
  • To highlight the distinct manifestations in affected males and females.
  • To emphasize the efficacy of estrogen replacement therapy.

Main Methods:

  • Review of reported cases of aromatase deficiency.
  • Clinical and biochemical analysis of affected individuals.

Related Experiment Videos

  • Evaluation of treatment outcomes with estrogen replacement therapy.

    • Main Results:

    • Aromatase deficiency causes fetal virilization due to androgen excess, manifesting as pseudohermaphroditism in females.
    • Affected females present with primary amenorrhea, lack of breast development, and virilization at puberty.
    • Affected males exhibit tall stature, delayed skeletal maturation, and eunuchoid features, diagnosed later in life.
    • Estrogen replacement therapy successfully reverses clinical symptoms in both sexes.

    Conclusions:

    • Aromatase deficiency is a rare but significant condition with distinct clinical phenotypes in males and females.
    • Early diagnosis and prompt estrogen replacement therapy are crucial for managing the long-term health consequences.
    • Understanding aromatase's role is vital for diagnosing and treating disorders of sex development and pubertal disturbances.