SPECTRUM OF CONGENITAL ABNORMALITIES AFFECTING FEMALE FERTILITY: UNDERSTANDING WITH MRI

Abstract

Abstract

Background & Objective: Accurate evaluation of Müllerian duct anomalies and androgen insensitivity syndrome is crucial for female fertility assessment. MRI, with its superior soft tissue resolution, plays a key role, particularly using 3mm T2-weighted (T2W) sequences for precise anatomical delineation.

Materials & Methods: Between January and August 2015, 30 patients (aged 14–35 years) underwent MRI for primary amenorrhea or infertility at DUHS. Ten congenital abnormalities were identified. MRI was analyzed by a fellowship-trained radiologist, incorporating thin-section T2W imaging alongside clinical, laboratory, and karyotyping data.

Results:

Among six primary amenorrhea cases: Four had Mayer-Rokitansky-Küster-Hauser syndrome. One had incomplete uterine didelphys, one was suspected of Sawyer syndrome/Complete Androgen Insensitivity Syndrome (CAIS).

Among three primary infertility cases: Two had no vaginal septum despite clinical suspicion. One had complete uterine didelphys.

Surgical cases included a CAIS patient with removed bilateral inguinal testes and a uterine didelphys case requiring hysterectomy for hematocolpos.

Conclusion

Thin-section MRI T2W imaging enhances the diagnosis of complex Müllerian anomalies and CAIS, offering better accuracy in the absence of volumetric 3D imaging.

Keywords: Müllerian anomaly, CAIS, MRI