Saturday, 2 May 2009


this lady has a short stature.
what is your diagnosis?
what this disorder due to?
what other features might be present?


  1. I think she has also short 4th ans 5th finger>>>> Hypoparathyrodism. It may psudo type or AD type in it short stature, roun face, obisity and hypocalcimai (carpopedal spasme). psodo hypopth>>> efect in PTH secretion.Psudo psudo type phynotypical similaR BUT NORMAL CALCIUM

  2. lady with short stature and absent 4th & 5th metacarapls:
    1. Turner`s syndrome
    2. Noonan`s syndrome
    3. Pseudohypoparathyroidism
    4. Pseudopsuedohypoparathyroidism

  3. Diff dx:
    1. Phenotype of Turner vs Noonan
    - take hx of period, fertility (Noonan can procreate)
    - features: high arch palate, webbed neck, low hairline, short arm span, wide-spaced nipple
    - CVS - noonan - right-sided cardiac lesion eg pulmonary stenosis, TR
    Turner - left sided cardiac lesion: AS, coarctation,ASD
    - check IQ

    2. pseudopseudohypoparathyroidism