Regardless of the cause, uterine anomalies not involving segmental m¨ullerian agenesis or hypoplasia (class I) are compatible with normal pregnancy. However, increased fetal wastage is reported in the presence of these anomalies (33). Uterine malformations are associated with spontaneous abortion, preterm labor, abnormal presentations, and complications of labor (i.e., retained placenta). Many of these uterine anomalies can be identified with hysterosalpingography (Fig. 29.9). Hysterosalpingography, laparoscopy, and hysteroscopy are used to differentiate a septate uterus (class V) from a bicornuate uterus (class IV). Magnetic resonance imaging (MRI) and endovaginal ultrasonography (sometimes with sonohysterography) are as accurate as these invasive techniques in identifying the abnormality (34).
Obstruction or malformation of the distal genital tract must be distinguished from androgen insensitivity. Individuals with androgen insensitivity have breast development in the absence of significant pubic and axillary hair development; the vagina may be absent or foreshortened in these women.
Basal levels of FSH and prolactin should be determined in individuals in whom secondary sex characteristics have not developed to maturity (Fig. 29.8). Bone age should be estimated from x-rays of the nondominant hand. If prolactin levels are elevated, thyroid function should be assessed to determine whether the individual has primary hypothyroidism. Paradoxically, primary hypothyroidism can result in precocious puberty. If thyroid function is normal, a hypothalamic or pituitary neoplasm is possible, and careful evaluation of the hypothalamic and pituitary area by MRI or computed tomography (CT) is indicated.
Table 29.2 Classification of Mullerian Anomalies
Class I. Segmented m¨ullerian agenesis or hypoplasia
A. Vaginal
B. Cervical
C. Fundal
D. Tubal
E. Combined
Class II. Unicornuate uterus
A. With a rudimentary horn 1.
2.
3.
B. Without any rudimentary horn
Class III. Uterus didelphys
Class IV. Bicornuate uterus
A. Complete to the internal os
B. Partial
C. Arcuate
Class V. Septate uterus
A. With a complete septum
B. With an incomplete septum
Class VI. Uterus with internal luminal changes
Adapted from Buttram VC Jr, Gibbons WE. M¨ ullerian anomalies: a proposed classification (an analysis of 144 cases). Fertil Steril 1979;32:40, with permission.
The karyotype should be determined in any individual with delayed puberty and increased basal FSH concentrations. Regardless of the karyotype, the individual with hypergonadotropic hypogonadism has some form of ovarian “failure” (i.e., primary hypogonadism).