Syndrome characterized by congenital absence of
vagina, rudimentary cornua uteri, and morphologically normal ovaries and
Fallopian tubes situated on the pelvic sidewall. Primary amenorrhea, normal
ovulation, breast development, body, and hair. Women are infertile.
Frequently associated with urinary tract anomalies, skeletal abnormalities,
congenital heart conditions, and inguinal hernia.
von Rokitansky Syndrome; Uterus Bipartitus Solidus
Rudimentarius cum Vagina Solida.
The first description of this disorder dates back to 1820,
when the German anatomist Auguste Franz Joseph Karl Mayer described this
kind of anomaly, followed by a report by the Austrian pathologist Karl
Freiherr von Rokitansky in 1838. The detailed description by the German
gynecologist Hermann Küster was published no earlier than 1910. Another
German gynecologist, G.A. Hauser, published one article each about the
Küstervon Rokitansky syndrome and the Mayer-von Rokitansky-Küster
syndrome in 1961. Thus, it seems the correct order of names is “Mayer-von
1:4000-5000 female newborns.
Congenital disorder that usually occurs
sporadically. Few familial cases have been described with an autosomal
recessive inheritance trait.
There is an arrest, for unknown reasons, of the
müllerian duct development at the fifth gestational week. Structures
deriving from the mesoderm can be involved (uterus, cervix, and upper 75%
of the vagina). Ovarian function is preserved because the ovaries originate
in the primitive ectoderm. Skeleton development from mesoderm is highly
sensible at this period.
Clinically evocated on functional complaints of primary
amenorrhea and unsatisfactory or impossible sexual intercourse. Sonography
can confirm diagnosis.
Female phenotype with normal secondary sexual
characteristics (breast and pubic hair growth). Pituitary and ovarian
function is normal, and ovulatory progesterone levels can be detected.
Features can involve the genitourinarysystem (congenital absence of the vagina, rudimentary
uterus, bipartite uterus, hypoplasia of kidneys, ectopic malformed kidneys).
Other frequent signs are short neck, low hair line, short stature, abnormal
rib scapula, abnormal position, and vertebral segmentation anomaly. Hearing
loss can occur. Two sisters with the syndrome have been described, both also
suffering from pulmonary valvular stenosis. Use echocardiography if cardiac
lesions are suspected.
Evaluate renal function (clinical,
echography, biology); assess the airway in view of tracheal intubation because of associated skeletal
anomalies (clinical, radiographs).
Careful intraoperative positioning is
needed because of skeletal deformities. Direct laryngoscopy and tracheal intubation could be
difficult because of short neck. It is recommended to maintain spontaneous
respiration until the trachea has been secured and lung ventilation is confirmed. Care with urinary catheter insertion, which
can be difficult.
Avoid muscle relaxants until airway
is secured. Nonnephrotoxic drugs are preferred. Aminoglycosides should be
used with care, considering renal function and hearing loss. Subacute
bacterial endocarditis prophylaxis may be required.
Complete Androgen Insensitivity Syndrome: Inherited disorder
caused by androgen insensitivity. Affected males have a female phenotype
with normal female external genitalia but abnormal or absent internal female
organs. Testes are often intraabdominal, in the ...