Aromatase Deficiency: Rare Cause of Virilization

Conclusions

AD is a cause of virilization in female fetus. In affected individuals, the placenta cannot convert androgenic precursors of estrogens to estradiol, which results in virilization of the mother and fetus. Females with AD are expected to have problems synthesizing estrogens at puberty resulting in delayed puberty, polycystic ovaries, and insulin resistance. Primary care physicians and surgeons should include AD in the differential diagnosis of XX DSD.

• References

• 1 Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab 1994; 78 (6) 1287-1292
• 2 Belgorosky A, Guercio G, Pepe C, Saraco N, Rivarola MA. Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. Horm Res 2009; 72 (6) 321-330
• 3 Hauri-Hohl A, Meyer-Böni M, Lang-Muritano M, Hauri-Hohl M, Schoenle EJ, Biason-Lauber A. Aromatase deficiency due to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. Clin Endocrinol (Oxf) 2011;
• 4 Meinhardt U, Mullis PE. The aromatase cytochrome P-450 and its clinical impact. Horm Res 2002; 57 (5-6) 145-152
• 5 Lin L, Ercan O, Raza J , et al. Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinol Metab 2007; 92 (3) 982-990
• 6 Bulun SE. Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. Semin Reprod Med 2000; 18 (1) 31-39