A 19-year-old patient complains of primary amenorrhea. She had well developed breast and public hair but on examination there was absence of uterus and vagina. Likely diagnosis is:
Ans. is b, i.e. Mullerian agenesisRef Jeffcoates 7th/ed, p197-198; Leon Speroff 7th/ed, p455-457,460-461,1261-1262In the question a 19-year-old girl is presenting with primary amenorrhea, she has well developed breast and public hair but on examination uterus and vagina are absent. Since her breast and public hair both are well developed- this means her secondary sexual characteristics are well developed.This means in this female amount of estrogen is adequate, which means she has normally functioning ovaries.Thus, options XYY (presence of Y Chromosome means- gonads are testis), Klienfelter's syndrome (genotype = 47XXY- again since Y chromosome is present, gonads are testes i.e. they are males) are ruled out and in gonadal dysgenesis- gonads are incompletely formed and are streak gonads, M/c example is Turner's syndrome - genotype 45XO. Since gonads are streak, therefore estrogen is insufficient so secondary sexual characteristics are not well developed. In Turners thus by exclusion, our answer is option b- i.e. Mayer Rokitansky kuster hauser syndrome."Patients with mullerian agenesis, typically present in late adolescence or as young adults, well after menarche was expected, with primary amenorrhea as their only complaint. They exhibit normal, symmetrical breast and public hair development, no usable vagina and have no symptoms or signs of cryptomenorrhea because the rudimentary uteri contain no functional endometrium." - Ref: Leon speroff 8th/ed, p455
XYY
Mullerian agenesis
Gonadal dysgenesis
Klinefelter syndrome
Disorders in Menstruation