Müllerian agenesis is a congenital malformation in women characterized by developmental failure of the Müllerian ducts, resulting in absence of the uterus and fallopian tubes, and varying malformations of the upper part of the vagina. A woman with this condition is hormonally normal, and will therefore develop normal secondary sexual characteristics at puberty. Her chromosome constellation is 46,XX. The ovaries are present, and ovulation usually occurs. There are two forms of MRKH: type I results in isolated absence of the vagina and uterus, and type II also affects other parts of the body. Among those with type II, 40 percent have kidney abnormalities (15 percent of this subgroup will have only one kidney), 10 percent will have hearing problems, and 10 percent to 12 percent will have skeletal abnormalities
. The association of this condition with endocrine diseases is rare and a common causality has not yet been determined
The cause of MRKH is unknown. Several genes have been tested to investigate a possible genetic cause, but no single factor has been identified as responsible for this condition
[7, 9]. Treatment consists almost exclusively of surgery, such as uterine and vaginal reconstruction, and occasionally uterine transplant.
Patients typically have a short vagina, and sexual intercourse may be difficult and painful. Women with MRKH usually discover their condition during investigation for primary amenorrhea. In this situation, most patients are evaluated for thyroid dysfunction, as some thyroid conditions may impair normal menstruation. Thyroid function and the reproductive system are connected via the hypothalamic-hypophyseal-ovarian axis.
Thyroid cancer is the most common endocrine tumor, and may be aggressive. Although the incidence of this cancer appears to have increased dramatically over the last decade
[3, 4], it is still considered to be rare. According to the European Surveillance of Rare Cancers Project (RARECARE), a rare cancer is defined as a tumor with an annual incidence of less than six cases per 100,000 persons
, and all thyroid cancers fall into this category
[3, 4, 11, 12]. Thyroid cancer accounts for 0.5 percent to 1.5 percent of all childhood tumors and is the most common malignancy of the head and neck in younger people
. An appropriate treatment strategy can cure this disease, minimize the risk of recurrence, and result in an excellent prognosis
As thyroid cancer has an incidence of six cases per 100,000 persons and MRHK has an incidence of one per 5000 women, it is emphasized that it is exceptionally rare for both to occur in the same patient. Both gynecologists and endocrinologists are encouraged to evaluate the thyroid gland in patients with amenorrhea.