All of the following are true about MRKH (Mayer - Rokitansky - Kuster - Hauser) syndrome except
Absent ovary Mayer Rokitansky kuster Hauser syndrome consists of vaginal aplasia with other mullerian (paramesonephric duct) abnormalities. In females the paramesonephric duct (mullerian duct) Rives origin to ? - Upper pa of vagina - Uterus - Fallopian tubes Thus ideally Meyer Rokitansky kuster hauser syndrome should be characterized by the complete absence of uterus, ovarian tubes and vagina. But it is seen that vaginal absence is the only consistent feature and uterus can be absent or present in rudimentary, form. Patient usually presents with anomalies of the genital tract which range ,from upper vaginal atresia to total mullerian agenesis i.e. absent vagina, uterus and. fallopian tubes. Ovaries remains unaffected in this syndrome because ovaries originate within the primitive ectoderm, independent of the mesonephros. Because ovarian function is normal, the patient experiences all bodily changes associated with menstruation and pubey. Features of Meyer Rokitansky kustner Hauser (Mullerian av,enesis syndrome) Sporadic inheritance Karyotype 46xx Normal breast developmentdeg Normal (adie)) and pubic hair Uterus absentdeg Vagina absentdeg Cervix absentdeg Ovary nonnaldeg Testosterone (female levels) Associated anomalies The presentation of complete mullerian agenesis (Meyer Rokitansky kuster Hauser syndrome) may be confused with androgen insensitivity syndrome. - In androgen insensitivity syndrome a patient has XY karyotype and functioning testes however, the body cannot respond to testosterone due to mutations in the androgen receptor. These two syndromes are compared below Comparison of Mullerian agenesis and Androgen insensitivity syndrome Presentation Mullerian agenesis Androgen insensitivity * Inheritance pattern Sporadic X-linked recessive * Karyotype 46xx 46xy * Breast development Yes Yes * Axillary and pubic hair Yes No * Uterus No No * Gonad Ovary Testis * Testosterone Female levels Male levels * Associated anomalie Yes No
Absent uterus
Absent cervix
Absent ovary
Absent vagina