Bone Disease Associated with Inactivating Aromatase Mutations and its Management.

Abstract excerpt

Aromatase deficiency (ORPHA:91; OMIM: 613,546) is a rare, autosomal recessive disorder due to loss of function mutations in the CYP19A1 gene, described in both genders with an estimated incidence below 1/1000000. While in female the clinical manifestations generally occur at birth or in early infancy, and mainly involve sexual characteristics, in men clinical signs of aromatase deficiency mostly occur in puberty...

Topics

• Female
• Humans
• Male
• 46, XX Disorders of Sex Development
• Aromatase
• Bone Diseases
• Gynecomastia
• Metabolism, Inborn Errors
• Mutation