An absent endometrium is an outﬂow tract abnormality that cannot be diagnosed by physical examination in a patient with primary amenorrhea. This abnormality is so rare that in a patient with normal physical findings (normal vagina, cervix, and uterus), it may be advisable to proceed with evaluation of endocrine abnormalities. Although in most cases performance of the progestogen challenge test is not recommended, this test may be of value to confirm the rare diagnosis of congenitally absent endometrium. In this case, progestogen can be administered to a woman who appears to have normal estrogen production (or if estrogen status is questioned, 2.5 mg conjugated estrogen or2 mg micronized estradiol can be given for 25 days with 5 to 10 mg of medroxyprogesterone acetate added for the last 10 days). Congenital absence of the endometrium is confirmed if no bleeding occurs with this regimen in a patient with primary amenorrhea and no physical abnormalities. This is a very rare diagnosis and routine performance of progestogen challenge is not recommended. Transvaginal ultrasound to assess endometrial thickness may be helpful, with a thickened endometrial lining indicating endometrial response to estrogen.
4.
Asherman syndrome cannot be diagnosed by physical examination. It is diagnosed by performing hysterosalpingography, saline infusion sonography (also known as saline hysterogram), or hysteroscopy. These tests will show either complete obliteration or multiple filling defects caused by synechiae. If tuberculosis or schistosomiasis is suspected, endometrial cultures should be performed.
Figure 30.3 A: Intrauterine adhesion seen on hysterosalpingogram in a patient with Asher-man syndrome. (From Donnez J, Nisolle M. The encyclopedia of visual medicine series—an atlas of laser operative laparoscopy and hysteroscopy. New York: Parthenon, 1994:306, with permission.)
Treatment of Women with Amenorrhea, Normal Secondary Sexual Characteristics, and Abnormalities of Pelvic Anatomy
Figure 30.3 (Continued ) B: Hysteroscopic view of intrauterine adhesion in a patient with Asherman syndrome.
The treatment of congenital anomalies can be summarized as follows: 1.
Treatment of an imperforate hymen involves making a cruciate incision to open the vaginal orifice. Most imperforate hymens are not diagnosed until a hematocolpos forms. It is unwise to place a needle into a hematocolpos without completely removing the obstruction because a pyocolpos may occur.
2.
If a transverse septum is present, surgical removal is required. Forty-six percent of transverse septa occur in the upper third of the vagina, and 40% occur in the middle third of the vagina (69). Frank dilators should be used to distend the vagina until it is healed to prevent vaginal adhesions (70). Patients have a fully functional reproductive system after surgery; however, patients with repaired high transverse septa may have lower pregnancy rates (71).
3.
Hypoplasia or absence of the cervix in the presence of a functioning uterus is more difficult to treat than other outﬂow obstructions. Surgery to repair the cervix is rarely successful, and hysterectomy is typically required (72). Endometriosis is a common finding, and it is questionable whether this condition should be treated initially with surgery or if it will resolve spontaneously after surgical repair of the obstruction. The ovaries should be retained to provide the benefits of estrogen and to allow for the possibility of future childbearing by removing mature oocytes for in vitro fertilization and transfer of embryos to a gestational carrier.
4.