A 19-year-old patient complains of primary amenorrhea. She had well developed breast and pubic hair but on examination there was absence of uterus and vagina. Likely diagnosis is :
Developmental defect of the Mullerian ducts resulting in the condition described as the Mayer-Rokitansky-Kuster-Hauser (MRHK) syndrome. The MRHK syndrome occurs in 1:5000-1:20,000 women at bih, and is diagnosed in approximately 1:1500 gynaecologic admissions. The clinical features include primary amenorrhoea, paial or complete absence of vagina, a wide array of uterine abnormalities, skeletal/renal and other associated abnormalities, a normal female appearance and secondary sexual characteristics and a normal 46 XX karyotype. The ovaries are anatomically and functionally normal. These patients seek medical consultation because of primary amenorrhoea or in case of presence of functional uterus (1:10 cases)--because of cyclic abdominal pain occurring as a result of occult menstruation. Pelvic ultrasonography/MRI and laparoscopy help to establish the diagnosis. Mullerian duct agenesis may result in the uterus represented by a nodule (rudimentary uterus) with hypoplastic or dimple vagina. Reference: Shaw's Textbook of gynaecology,16th edition page no 132
XYY
Mullerian agenesis
Gonadal dysgenesis
Klinefelter syndrome
Disorders of menstruation