A rare association of schizophrenia and Mayer-Rokitansky-Küster-Hauser syndrome.

Abstract

Sir, Schizophrenia is known to be associated with the various congenital disorders such as craniofacial anomalies, DiGeorge syndrome but its association with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome has rarely been reported.[12] MRKH syndrome is characterized by congenital aplasia of the uterus and the upper part. (2/3) of the vagina in women showing the normal development of secondary sexual characteristics and a normal 46, XX karyotype.[3] To the best of our knowledge, till date, there has only been one published case report of the coexistence of these two disorders.[4] We report another case of a 24-year-old unmarried woman Ms. A, with MRKH syndrome and schizophrenia for its interesting phenomenology and management. She presented with worries related to primary amenorrhea and infertility since adolescence, though detailed evaluation had not been done before. This was followed after 3 years by suspiciousness, the delusion of control and impulsive behavior. She believed that a certain unseen man staying abroad was controlling her mind and wants to marry her. She would hear voices of that man and converse with him. She would experience sensations in her vaginal area that she would attribute to sexual intercourse with that man, possible through some scientific technology devised by him. In addition, she would get distressed due to hearing voices of some other unknown persons, discussing about her and commanding her to do certain activities. Those unknown people would know her thoughts and control her actions through a transmitter device fitted in her ear. Ms. A would become irritable, aggressive, and violent toward family members whenever confronted regarding her beliefs. On psychiatric assessment, the psychopathology was confirmed. She had hallucinatory behavior, fearful affect, thought broadcast, the delusion of control, second and third person auditory hallucinations, a haptic hallucination of sexual content, impaired judgment with absent insight on mental status examination. She received a diagnosis of schizophrenia, paranoid type with MRKH syndrome. Diagnosis of MRKH was established by the presence of primary amenorrhea, normal development of secondary sexual characteristics, external genitalia, and ultrasonography finding of absence of the uterine structure between the bladder and rectum. The patient was started on oral olanzapine 10 mg/day, which was later, changed to oral quetiapine up to 600 mg/day with a satisfactory response. She was counseled for the vaginal atresia and vaginoplasty was recommended just before marriage after the consultation with the gynecologist. Future treatment options such as in vitro fertilization and embryo transfer was also discussed with the patient and family members. MRKH syndrome is associated with a number of neuropsychiatric manifestations such as distortions of body image, anxiety, depression, suicide, inter-personal sensitivity, and high psychological distress.[3567] Recent genetic research shows the deletion 17q12 is a recurrent,. pathogenic copy number variants that confers a very high risk for schizophrenia,[8] similarly 17q12 complex micro deletion is also found to be associated with the MRKH syndrome[910] suggestive of common genetic link between the two disorders. Both, psychiatrists and gynecologists need to be aware of this association and more research is required to test the link between these two disorders. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. Acknowledgement We acknowledge the help of the department of obstetrics and gynecology in helping us to manage the patient.