Introduction
The female genital tract develops from the paired Müllerian (paramesonephric) ducts, which fuse to form the uterus, cervix and upper vagina; the lower vagina comes from the urogenital sinus. Anomalies affect about 4–7% of women and are often associated with renal tract anomalies (same mesodermal origin).
Vaginal and hymenal anomalies
- Imperforate hymen: primary amenorrhoea with monthly pain, a bulging bluish membrane, haematocolpos; cruciate incision.
- Transverse vaginal septum: similar picture, higher obstruction; surgical excision.
- Longitudinal septum, vaginal atresia.
Disorders of sex development (examples)
- Turner syndrome (45,X): short stature, streak ovaries, primary amenorrhoea, high FSH; HRT, heart and kidney checks.
- Complete androgen insensitivity (46,XY): female phenotype, breasts, absent uterus, testes in the abdomen or groins (gonadectomy after puberty).
- Congenital adrenal hyperplasia (21-hydroxylase deficiency): virilised 46,XX girls, salt-wasting crisis in newborns.
Diagnosis
- Examination, 3D ultrasound (best for telling septate from bicornuate), MRI, hysteroscopy and laparoscopy.
- Always image the kidneys (renal agenesis on the same side is common).
- Karyotype and hormones in primary amenorrhoea.
A septate uterus is the commonest Müllerian anomaly and the one with the worst pregnancy outcome, but it can be corrected hysteroscopically.