Turner syndrome
Case Study 2: James, a 32 year old Asian male makes a doctors visit for a regular checkup. Unable to find a babysitter last minute, James brings along his 4 year old daughter, Cindy. James mentions to his doctor that he is slightly worried about his daughters growth and current height, saying that she is the smallest girl in her daycare program. Other than that Cindys fingers seemed a little bit like a babys and somewhat chubby, there seemed to be no overwhelming indication that there was anything wrong with Cindy. Thus, the doctor tells James not to worry about Cindy, she seems to be just fine. About two years later, James brings Cindy to the doctor again, still worried about Cindys lack of growth, and this time, with additional concerns about Cindys emotional state, what he describes as lazy eyes, and perceived difficulties in math and reading. Moreover, James informs the doctor that just two days prior, Cindy had experienced mild vaginal bleeding. During this visit, the doctor also notices that Cindy has a slight but noticeable midline diastema. The doctor refers Cindy to a pediatrician this time, and a thorough examination reveals the following:
1) Bicuspid aortic valve (suspected by echocardiography, confirmed by MRI)
2) Normal brain MRI
3) Grade II to III mobility of left and right premolars and molars
4) Duplex collecting system
Other patient info:
Height: 99cm at 6yrs
Weight: 20.3kg at 6yrs
Prior surgery: none
Family history of cancer: grandfather on mothers side died of lung cancer at age 62
Family history of heart disease: James was treated for non-recurring PACs during college
Current medication: childrens multi-vitamin, no medication
Temp: 36.2oC
BP: 130/74
HR: 114 bpm
Respiration Rate: 26/min
2. What is the mechanism of this disease and provide some additional information, such as epidemiology, history, or genetic influence.
3. What additional tests might be useful for further refining the diagnosis of this patient? Pay particular attention to which specific type of blood work would be necessary / beneficial for this patient
