Imperforate hymen and Mullerian anomalies

What it is

These are the outflow tract disorders of primary amenorrhea, the group in which secondary sexual characteristics are present and the block is in the outflow tract. Primary amenorrhea itself is no menses by 16 yrs of age in the presence of secondary sexual characters, or no menses by 14 yrs of age in their absence.

With normal breast development the split is by whether the uterus is there. If the uterus is present, the cause is cryptomenorrhea: transverse vaginal septum or imperforated hymen. If the uterus is absent, then with absent pubic and axillary hair it is androgen insensitivity syndrome or 5 alpha reductase deficiency, and with present pubic and axillary hair it is Mullerian agenesis, the Rokitansky syndrome.

Mullerian agenesis also sits among the congenital uterine causes of infertility, with septate uterus, bicornuate uterus, uterine didelphys, which is 2 uterus, and Mullerian agenesis.

How it presents

Both forms of cryptomenorrhea give cyclical lower abdominal pain. A transverse vaginal septum gives a palpable lower abdominal swelling, the hematometra. An imperforated hymen gives a bulging, bluish membrane at the lower end of the vagina, and on vaginal examination a bluish mucous membrane, the hymen, covers the vaginal orifice.

The picture is a girl of 15 who has never had her period but has regular monthly pain and normal secondary sexual development of breast and shape.