questions 9

Turner Syndrome

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Topic updated on 02/11/17 1:16pm

Introduction
  • Monosomy resulting from
    • nondisjuction (XO)
    • mosaicism (XX, XO; XY, XO) 
    • only monosomy not aborted in utero
    • no Barr bodies
  • Leads to abnormal sexual differentiation with 
    • primary amenorrhea
    • streak gonads  
      • menopause before menarche
    • infertility
    • delayed sexual maturation
    • normal intellegence
  • Pathogenesis
    • ↓ estradiol leads to ↑ FSH and LH 
    • normal GH and insulin-like growth factor
Presentation
  • Physical exam 
    • short stature
    • webbed neck
    • shield chest
    • wrist and ankle edema
      • both edema and webbed neck a result of malformed lymphatic vasculature  
Prognosis, Prevention, and Complications
  • Increased risk for
    • gonadal blastoma (specifically XY, XO mosaics)
    • preductal coarctation of aorta and bicuspid aortic valve 
    • dysgerminoma ovarian tumor
    • horseshoe kidney

 



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Qbank (6 Questions)

TAG
(M1.RP.0) A 37-year-old G1P0 at 15 weeks gestation presents for an amniocentesis after a routine triple screen demonstrated an elevated serum AFP. A chromosomal analysis revealed the absence of a second sex chromosome. Which of the following features will the infant most likely have? Topic Review Topic

1. Mental retardation
2. Macroglossia
3. Micrognathia
4. Cystic kidneys
5. Streak ovaries

PREFERRED RESPONSE ▶
TAG
(M1.RP.1) An 8-year-old girl presents to her pediatrician after falling from a tree. On exam, she has no signs of bone fractures. The pediatrician also notes that the patient has an unusual appearance and decides to send a blood sample for karyotyping (Figure A). Which of the following physical characteristics is associated with this chromosomal abnormality? Topic Review Topic
FIGURES: A          

1. Gynecomastia
2. Rocker-bottom feet
3. Elfin-facies
4. Webbed neck
5. Microcephaly

PREFERRED RESPONSE ▶
TAG
(M1.RP.72) A 16-year-old girl presents with primary amenorrhea. On exam, you note that she is short and has a shield chest. You order abdominal imaging, which suggests the presence of streak gonads.

Of the choices listed below, which of the following karyotypes is possible in this patient?

I: 45, XO
II: 45XO/46XX mosaicism
III: 46XX with partial deletion Topic Review Topic

1. I only
2. I and II
3. I and III
4. I, II, and III
5. II and III

PREFERRED RESPONSE ▶
TAG
(M1.RP.72) A 8-year-old girl is brought to the physician by her parents because they are concerned that she is not growing properly. She lives on a farm with her parents and has not seen a doctor since birth, at which point they noted swelling of her hands and feet. An image of the patient is shown in Figure F. Which of the following karyotypes would you expect to find in this patient? Topic Review Topic
FIGURES: A   B   C   D   E   F

1. Figure A
2. Figure B
3. Figure C
4. Figure D
5. Figure E

PREFERRED RESPONSE ▶
TAG
(M1.RP.72) A 17-year-old female presents to your office concerned that she has not started menstruating. After further work-up, a karyotype of the patient's chromosomes is obtained, with the results of this test shown in Figure A. Which of the following findings/comorbidities is commonly associated with this patient's condition? Topic Review Topic
FIGURES: A          

1. Absent uterus
2. Coarctation of the aorta
3. Polycystic kidneys
4. Tall stature
5. 'Elfin' facies

PREFERRED RESPONSE ▶
TAG
(M1.RP.72) A 30-year-old woman presents to your primary care office for follow-up care. She has a history of primary amenorrhea and short stature. She recently underwent a cardiovascular diagnostic work-up (see Figure A). Which of the following is frequently associated with her underlying disorder? Topic Review Topic
FIGURES: A          

1. Lymphedema
2. Severe acne
3. Increased serum estrogen levels
4. Anatomical abnormality of the vaginal canal
5. Subnormal intelligence

PREFERRED RESPONSE ▶
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