Uterovaginal malformation

Uterovaginal malformation (Orphanet code 180062) is a broad category of congenital anomalies affecting the development of the uterus and vagina, which arise from the Müllerian (paramesonephric) ducts during embryonic development. These malformations encompass a wide spectrum of structural abnormalities, including uterine agenesis, unicornuate uterus, bicornuate uterus, septate uterus, didelphys uterus, vaginal agenesis, vaginal septum, and various combinations thereof. The condition primarily affects the female reproductive system and may also be associated with anomalies of the urinary tract and skeletal system, as these organ systems develop in close embryological proximity. Clinical presentation varies widely depending on the specific type and severity of the malformation. Some patients may be asymptomatic and diagnosed incidentally, while others present at puberty with primary amenorrhea, cyclic pelvic pain, or difficulty using tampons. In adulthood, uterovaginal malformations may be identified during evaluation for infertility, recurrent pregnancy loss, or obstetric complications such as preterm delivery or malpresentation. Specific well-known syndromes within this group include Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, characterized by congenital absence of the uterus and upper vagina in individuals with a normal female karyotype (46,XX) and normal secondary sexual characteristics. Diagnosis typically involves imaging studies such as pelvic ultrasound, magnetic resonance imaging (MRI), and sometimes hysteroscopy or laparoscopy. Treatment depends on the specific malformation and the patient's symptoms and reproductive goals. Surgical interventions may include hysteroscopic septum resection, vaginal dilation therapy or vaginoplasty for vaginal agenesis, and reconstructive procedures for obstructive anomalies causing pain or hematocolpos. Assisted reproductive technologies may be considered for patients with fertility challenges. A multidisciplinary approach involving gynecologists, reproductive endocrinologists, urologists, and psychologists is often recommended for comprehensive care.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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