Contemporary issues in primary amenorrhea

Abstract

Reproductive medicine has changed dramatically since the 1981 publication of the study of patients presenting with pubertal amenorrhea. The breakdown of causes likely remains unchanged, with the four most common causes of primary amenorrhea being ovarian failure (48.5%), congenital absence of the uterus and vagina (16.2%), GnRH deficiency (8.3%), and constitutional delay of puberty (6.0%). In the study of patients reported by Reindollar, 60% of patients had barriers to reproduction. Since its publication over 15 years ago, developments in assisted reproductive technologies have enabled pregnancy in many of these patients. Women with ovarian failure may gestate pregnancies from donated oocytes. Women with congenital absence of the uterus and vagina may have their fetuses carried in a surrogate uterus. During this period, the advances of molecular medicine have provided a better understanding of the etiologies of many of these disorders, including Turner's syndrome; 46,XY gonadal dysgenesis; 46,XX gonadal dysgenesis; hypogonadotropic hypogonadism; enzyme-deficient states; gonadotropin resistance; and androgen insensitivity. Contemporary issues related to these disorders involve information about molecular defects and outcome of pregnancies for patients previously considered sterile. Largely, this information has been extremely helpful and reassuring. However, the reported deaths of patients with Turner's syndrome who become pregnant by donor oocyte should remind us to proceed cautiously as new reproductive avenues are opened for these patients.