DEVELOPMENTAL ANOMALIES
Ovarian failure is one of the hallmarks of Turner syndrome. The typical picture is produced not only by ovarian agenesis but also by coexisting congenital abnormalities of the skeletal, cardiovascular, and nervous systems. This entity is characterized by short stature, primary amenorrhea, sexual infantilism, high gonadotropin level, and multiple congenital abnormalities.
Following midgestation, there is a rapid increase in oocyte atresia as
compared to normal ovaries, often resulting in early ovarian failure. The rate
of complete depletion varies; some have primary amenorrhea with no secondary
sexual characteristics, whereas others have varying degrees of pubertal
development. The depleted ovaries are usually represented by thin, elongated,
firm, whitish thickenings on the posterior surface of each broad ligament. On
section, they are usually composed of spindlelike cells, arranged in whorls,
without evidence of germ cells or follicles. The internal genitalia are
markedly hypoplastic, being smaller than those seen in the newborn infant.
The diagnosis is usually made after puberty, when a primary amenorrhea
and the absence of secondary sex characteristics are noted in conjunction with
other congenital defects. The estrogen deficiency is manifested by undeveloped
genitalia and breasts, sparse pubic and axillary hair, delayed epiphyseal
union, osteoporosis, and fine wrinkling of the skin (precocious senility).
The patients are short, averaging 52 in. and rarely attaining a height of
more than 58 in. A variety of congenital anomalies have been associated with
this syndrome, including cubitus valgus (increased carrying angle), webbing of
the neck (symmetric winglike folds of skin extending from the base of the skull
to the supraclavicular spaces), and a shield-like chest (broad, deep, stocky
chest). Other abnormalities include spina bifida; syndactylism; malformation of
the ribs, wrists, or toes; Klippel-Feil syndrome; coarctation of the aorta;
deafness; mental deficiency; hypertension; and ocular disorders.
Laboratory abnormalities include a marked increase in gonadotropin
levels, approximating titers found in castrated or postmenopausal women, and
17-ketosteroids that are only slightly reduced. This minimal decrease in
adrenocortical function is insufficient to prevent the growth of sparse pubic
and axillary hair. Karyotyping will unequivocally establish the diagnosis.
Therapy is substitutional, since the ovaries are incapable of
stimulation. Estrogens may be given daily for 2 to 6 months to start sexual
development and then changed to cyclical administration. After 4 to 6 months of
estrogen-only therapy, progesterone is usually added in a cyclical fashion to
achieve a more natural endometrial shedding, reducing the risk of iatrogenic
hyperplasia. Under this regimen the breasts develop, the axillary and pubic
hair increase, the external and internal genitalia mature, and the vagina
becomes more capacious.
Developmental anomalies of the ovary other than ovarian aplasia are rare.
They include absence of one ovary, ectopic ovary, third ovary, accessory
ovaries, and congenital displacements. The absence of one ovary is almost
invariably associated with a failure in development of the corresponding tube,
half the uterus, a kidney, and the ureter. An ectopic ovary, usually with only
the osteal end of the tube attached, may be present in the retroperitoneal
lumbar region or inguinal area. A third ovary is exceedingly rare. It may
conceivably arise from a duplication of the gonadal site. This diagnosis is
unquestionable if an associated third fallopian tube is present. Such a true,
supernumerary ovary may be intra-or extraperitoneal and is prone to the
development of neoplastic cysts, teratomas, or sarcomas. False, accessory
ovaries are separate segments of ovarian tissue, attached to a normally situated
ovary by intervening bands of fibrous or attenuated ovarian tissue. The term bipartite
or succenturiate ovary is sometimes applied to this splitting or
partitioning effect.
Congenital displacements include herniation of the ovary within a peritoneal sac in the inguinal, femoral, sciatic, obturator, or perineal regions. Excessive degrees of prolapse into the cul-de-sac of Douglas may occur, sometimes leading to a true vaginal herniation of the ovary.
