Question-282

17 y.o. girl with primary amenorrhea. Breast development is Tanner 2, although she has axillary and pubic hair of adult type. O/e no palpable masses in the abdomen, vaginal examination is not performed. She is short (like 140 cm?).
What is the most likely diagnosis?


a. Mellerian dysgenesis
b. Ovarian dysgenesis
c. Pitutary tumor
d. PCO

The classic picture of Turner's syndrome or
gonadal dysgenesis is well known and is associated
with a variety of other anomalies.4 In a review of
the literature, the women involved are described
as having primary amenorrhea, are of short stature
but not dwarfed and possess rudimentary ovaries.
The sexual hair is scant or absent and there is
conspicuous lack of breast development. The uterus
and vagina are infantile in type. There is also an
associated high urinary gonadotropin level and
lowered urinary 17-ketosteroids.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610979/pdf/jnma00550-0045.pdf

B