Familial müllerian agenesis

Abstract

Mullerian agenesis is characterized by the absence of the fallopian tubes, uterus and internal portion of the vagina. Patients have normal female phenotype and genotype, with normal secondary sex characteristics but with amenorrhea. We report a family in which mullerian agenesis was diagnosed in three siblings and their two paternal aunts. This family was ascertained when the proband was evaluated for primary amenorrhea. She had normal secondary sexual development. Her karyotype was 46, XX. Ultrasound examination and magnetic resonance imaging of the pelvis revealed absence of the uterus and vagina. The proband had three sisters and two of them showed similar physical and radiological findings. Two of the proband's paternal aunts had no uterus. Although the pathogenesis of mullerian agenesis is well understood, the etiology and genetics are still unknown. Various forms of inheritance patterns have been suggested by several authors. In conclusion, it would appear that mullerian agenesis is influenced by multifactorial inheritance and polygenic and familial factors.