Turner Syndrome Flashcards
(11 cards)
Turner syndrome should be suspected in girl with
short stature
Dysmorphic features (ie short metacarpals)
Tx to maximize linear growth potential for girls with Turner Syndrome
Recombinant growth hormone
Turner syndrome electron microscopy
Since there is only one X chromosome, the Q can say there is no Barr body visible on electron microscopy
LH and FSH in Turner Syndrome
LH and FSH both increased due to primary hypogonadism (i.e. decreased negative-feedback to hypothalamus and anterior pituitary due to decreased ovarian hormones and inhibin).
Key hormonal finding in Turner syndrome
Infertile due to streak ovaries. In Turner, this is colloquially referred to as “menopause before menarche.”
Can women with Turner syndrome have kids?
Can still have children with IVF using donor egg + exogenous hormones (asked sometimes on behavioral/psych Qs).
Key physical findings in Turner syndrome
- Short stature (usually < 5 feet)
- Tanner stage 1 breast development (“shield
chest”) - cystic hygroma (webbed neck due to lymphatic insufficiency; asked on NBME)
- scattered nevi (confuses students for things like NF1, but I don’t know what to say; you need to know scattered nevi are seen in Turner)
- normal pubic and axillary hair (Tanner 4-5).
Increased risk of what in Turner syndrome
Increased risk of dysgerminoma developing from the streak ovaries
Prophylaxis for malignancy risk in Turner syndrome
Increased risk of dysgerminoma developing from the streak ovaries; prophylactic oophorectomy is recommended, especially if there is Y-chromosome material present in rarer mosaic forms of Turner.
If Q tells you there’s a fraction of a female’s cells that are 46XX and another fraction that’s 45XO (i.e., somatic mosaic Turner)
“post-fertilization mitotic error”
HY findings for Turner syndrome
- Coarctation of the aorta
- bicuspid aortic valve (aortic stenosis)
