Aromatase deficiency

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Aromatase deficiency
Testosterone estradiol conversion.png
Classification and external resources
OMIM 107910
DiseasesDB 29906

Aromatase deficiency is a condition resulting from insufficient production of the enzyme aromatase,[1] which can lead to inappropriate virilization in females.

Signs and symptoms[edit]

The deficiency causes the virilization of XX fetuses. Although they will have normal female internal genitalia, clitoromegaly often results from the high androgen levels in utero, along with ambiguous external genitalia upon birth.

Testosterone may be normal or elevated.[2]

Later, the lack of estrogen results in the presentation of primary amenorrhea and tall stature. The taller than expected height occurs because estrogen normally causes fusion of the epiphyseal growth plates in the bones, and in its absence, the girl will keep growing longer. The gonadotropins LH and FSH will both be elevated and patients present with polycystic ovaries. Furthermore, the low estrogen will predispose those with the condition to osteoporosis.

In pregnancy[edit]

Aromatase deficiency in the baby can also affect the mother during gestation, with increased facial hair growth and deepening of the mother's voice. Increased circulating testosterone levels are the primary cause. The mother's symptoms resolve after she gives birth.[3]

See also[edit]


  1. ^ Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K (December 1995). "Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens". J. Clin. Endocrinol. Metab. 80 (12): 3689–98. doi:10.1210/jc.80.12.3689. PMID 8530621. 
  2. ^ Zirilli L, Rochira V, Diazzi C, Caffagni G, Carani C (April 2008). "Human models of aromatase deficiency". J. Steroid Biochem. Mol. Biol. 109 (3-5): 212–8. doi:10.1016/j.jsbmb.2008.03.026. PMID 18448329. 
  3. ^ Jones ME, Boon WC, McInnes K, Maffei L, Carani C, Simpson ER (May 2007). "Recognizing rare disorders: aromatase deficiency". Nat Clin Pract Endocrinol Metab 3 (5): 414–21. doi:10.1038/ncpendmet0477. PMID 17452968.