46,XY agonadism associated with adrenal adenoma/myelolipoma: report of a case analyzing Y-chromosome-specific sequences

Abstract

A unique patient with 46,XY agonadism associated with adrenal adenoma/myelolipoma is described. The patient was an 18-year-old female with primary amenorrhea, lack of secondary sexual development and an aldosterone-producing adrenocortical adenoma associated with foci of myelolipoma. Molecular analyses of Y-chromosome-specific regions, including automated sequencing of the entire coding region of SRY, the Y-linked testis-determining gene, were performed. Our results excluded the possibility that a mutation in SRY was responsible for this unusual clinical combination.

• Agonadism
• Adrenal Tumor
• SRY