Aromatase deficiency

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Aromatase deficiency
Classification and external resources
Testosterone estradiol conversion.png
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.

One notable feature is that it can also affect the mother during gestation with increased facial hair growth and deepening of the voice. Increased circulating testosterone levels are the primary cause. These symptoms resolve after birth. [2] The deficiency also causes the virilization of XX fetuses, and 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.[3]

The lack of estrogen results in the presentation of primary amenorrhea and tall stature; the latter occurs because estrogen normally causes fusion of the epiphyseal growth plates. 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.

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. ^ 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. 
  3. ^ 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.