RECOGNITION AND MANAGEMENT OF CONGENITAL REPRODUCTIVE ANOMALIES

Anatomic gynecologic anomalies, including congenital absence of the va gina, defects in lateral and vertical fusion of the mullerian ducts, a nd disorders of sexual development, occur with surprising frequency in referral practices of reproductive endocrinology and reproductive sur gery. This article serves to review the embryology and development of the reproductive system and to describe common genital tract anomalies . Details of surgical or nonsurgical correction of these anomalies are presented. Obstetrical and gynecologic consequences of these defects are described. The reproductive organs consist of gonads, a ductal sys tem, and external genitalia. Although the final maturation of the repr oductive organs occurs after birth, the critical developmental steps o ccur during the embryonic and fetal periods of development. Initially, the reproductive system is capable of developing either along male or female lines independent of whether an XX or XY chromosome complement is present. Sexual differentiation is dependent on the genetic sex, w hich is determined at fertilization by the presence or absence of the Y chromosome. In the presence of the Y chromosome the gonads develop a s testes, leading to the production of hormones that promote the devel opment of the male or wolffian ductal system and the regression of the female or mullerian ductal system. Therefore, sexual differentiation is dependent on the genetic sex, the gonadal sex, and the phenotypic s ex. Congenital genital tract anomalies include defects in gonadal and ductal development and defects in external genitalia differentiation. The American Society of Reproductive Medicine published a classificati on of mullerian anomalies that grouped anomalies in categories based o n similarities in clinical presentation, obstetrical outcome, and trea tment options. The classification system, however, does not include va ginal anomalies. Therefore, an alternative classification system has b een described that separates uterovaginal anomalies into three separat e groups on the basis of similar embryonic developmental defects and c linical presentation. The three groups include patients,vith agenesis of the uterus and vagina, patients with defects in vertical fusion (ob structive or nonobstructive), and patients with defects in lateral fus ion (obstructive or nonobstructive). One of the greatest responsibilit ies of the obstetrician is the assignment of a sex to the newborn. A p rofound dilemma exists in the event of ambiguity of the external genit alia. Ambiguous external genitalia in a newborn is a true medical emer gency and represents a diagnostic challenge. The development of ambigu ous external genitalia is a result of abnormal or inappropriate androg en representation in utero. A classification scheme for the evaluation of newborns with sexual ambiguity is included in this article. Proble ms that arise in the external genitalia that are associated with exces s virilization of the female fetus or undervirilization of the male fe tus are considered intersex states, and the sex of rearing needs to be determined. This section will consider female intersex induced by con genital-adrenal hyperplasia, endogenous and exogenous androgen product ion, incomplete androgen insensitivity, and 5-alpha reductase deficien cy. Successful management of congenital anomalies of the genital tract demands both intense psychologic support and a high degree of surgica l skill. In-depth consultation should be obtained or the patients shou ld be referred to centers where such expertise exists and where long-t erm follow-up can be provided. Certain rules can be applied to each of the categories of congenital genital tract anomalies, but one of the most important rules is that there are no rules, and each case has to be dealt with individually, depending on the patients anatomy, desires , and age.