Updated: 5/14/2020

Turner Syndrome

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Overview
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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Questions (10)

(M1.RP.17.4773) A 17-year-old female presents to her pediatrician complaining that she has not started having menstrual periods. The patient performs well academically and plays the flute in her school’s marching band. Her past medical history is notable for asthma, which is well managed on intermittent usage of inhaled albuterol. She also has a history of a kidney surgery as an infant. She is in the 20th and 30th percentiles for height and weight, respectively. Her temperature is 98.6°F (37°C), blood pressure is 120/75 mmHg, pulse is 95/min, and respirations are 18/min. A physical examination finding is shown in Figure A. Which of the following sets of hormone levels (estrogen, follicle stimulating hormone, luteinizing hormone, and gonadotropin-releasing hormone) is most closely associated with this patient’s condition? Tested Concept

QID: 109129
FIGURES:
1

Decreased estrogen, elevated FSH, elevated LH, normal to elevated GnRH

47%

(136/292)

2

Elevated estrogen, decreased FSH, elevated LH, decreased GnRH

6%

(17/292)

3

Normal estrogen, normal FSH, normal LH, normal GnRH

6%

(17/292)

4

Decreased estrogen, decreased FSH, decreased LH, increased GnRH

22%

(64/292)

5

Decreased estrogen, decreased FSH, decreased LH, decreased GnRH

16%

(46/292)

M 1 B

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(M1.RP.15.72) 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
Tested Concept

QID: 106521
1

I only

21%

(28/136)

2

I and II

35%

(47/136)

3

I and III

7%

(9/136)

4

I, II, and III

32%

(44/136)

5

II and III

3%

(4/136)

M 1 D

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(M1.RP.15.72) 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? Tested Concept

QID: 106532
FIGURES:
1

Lymphedema

57%

(31/54)

2

Severe acne

7%

(4/54)

3

Increased serum estrogen levels

6%

(3/54)

4

Anatomical abnormality of the vaginal canal

13%

(7/54)

5

Subnormal intelligence

15%

(8/54)

M 2 C

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(M1.RP.15.72) 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? Tested Concept

QID: 106530
FIGURES:
1

Absent uterus

7%

(4/60)

2

Coarctation of the aorta

78%

(47/60)

3

Polycystic kidneys

5%

(3/60)

4

Tall stature

5%

(3/60)

5

'Elfin' facies

5%

(3/60)

M 2 B

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(M1.RP.14.0) A 37-year-old G1P0 at 15 weeks gestation presents for an amniocentesis after a routine triple screen demonstrated a mildly 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? Tested Concept

QID: 107003
1

Mental retardation

18%

(11/62)

2

Macroglossia

0%

(0/62)

3

Micrognathia

3%

(2/62)

4

Cystic kidneys

6%

(4/62)

5

Streak ovaries

73%

(45/62)

M 1 E

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(M1.RP.14.1) 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? Tested Concept

QID: 106989
FIGURES:
1

Gynecomastia

6%

(2/34)

2

Rocker-bottom feet

0%

(0/34)

3

Elfin-facies

6%

(2/34)

4

Webbed neck

76%

(26/34)

5

Microcephaly

3%

(1/34)

M 1 C

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Evidence (8)
Topic COMMENTS (8)
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