Some 45,X individuals have normal puberty, but have early menopause. Some familial Xq deletions have also been described, and there is a questionable association of Fragile X carrier females and premature ovarian failure. Mendelian disorders include galactosemia, myotonic dystrophy, autoimmune polyglandular syndrome type I, and blepharophimosis-ptosis. In males, congenital bilateral absence the vas deferens should be considered. In males with oligospermia and azoospermia, chromosomal abnormalities should be considered.
Genetic counseling is of paramount importance.
General overview of evaluation and testing is shown for male and female infertility. She previously had three elective abortions, and one prior uncomplicated, term, vaginal delivery with her first husband. She has no medical problems, and her family history noncontributory. She denies a history of galactorrhea, thyroid disease, hirsutism, pelvic inflammatory disease, gonorrhea, or chlamydia. Her physical exam is unremarkable, and a sonohysterography revealed a normal uterine cavity.