title: Familial müllerian agenesis.
abstract: Müllerian 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 müllerian 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 müllerian 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 müllerian agenesis is influenced by multifactorial inheritance and polygenic and familial factors.
authors.affiliation: Department of Pediatrics, Başkent University Adana Hospital, Adana, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Tiker
authors.forename: S V
authors.initials: SV
authors.lastname: Yildirim
authors.forename: O
authors.initials: O
authors.lastname: Barutçu
authors.forename: T
authors.initials: T
authors.lastname: Bağiş
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000209:etiology; D005260:Female; D005838:Genotype; D006059:Gonadal Dysgenesis / Q000150:complications / Q000235:genetics; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D010375:Pedigree