Primary amenorrhea

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How to mark the correct cause of primary amenorrhea from question?

  • First to look at whether the secondary sexual characteristics (mainly thelarche [enlargement of breast]) is present or not
  • Then proceed according to the following charts
  • Please note that the charts are purely for MCQ purposes only.

Other MCQs from these 2 tables:

Kallmann syndrome:

  • Embryologically GnRH neurones develop in the ectodermal olfactory placode before they migrate finally to the hypothalamus
  • GnRH neurones are absent due to partial or complete agenesis of olfactory bulb
  • This disorder is characterized by hypogonadotropic hypogonadism, anosmia and color blindness.

Turner syndrome:

  • Uterus is present but breast and ovary are absent
  • Short stature due to absence of SHOX gene (which plays an important role in the growth and maturation of long bones)
  • MC associated cardiac abnormality: Bicuspid aortic valve
  • Associated with horseshoe kidney.

More points to differentiate between Mullerian agenesis/ Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and Androgen insensitivity syndrome (AIS)/ Testicular feminization syndrome:

 

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