Mayer-Von Rokitansky-Küster-Hauser Syndrome

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 Rokitansky-Küster-(Hauser) syndrome.”

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 inguina, or in the labia. Newborns are identified by the presence of inguinal masses corresponding to enlarged testes. Some patients are first seen in the teenage years for evaluation of amenorrhea. Normal male (46,XY) karyotype.