Updated: 10/2/2018

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 (9)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
Calculator

(M1.RP.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? Review Topic

QID: 109129
FIGURES:
1

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

46%

(130/282)

2

Elevated estrogen, decreased FSH, elevated LH, decreased GnRH

6%

(17/282)

3

Normal estrogen, normal FSH, normal LH, normal GnRH

6%

(16/282)

4

Decreased estrogen, decreased FSH, decreased LH, increased GnRH

22%

(62/282)

5

Decreased estrogen, decreased FSH, decreased LH, decreased GnRH

16%

(46/282)

M1

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PREFERRED RESPONSE 1
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(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 Review Topic

QID: 106521
1

I only

18%

(19/103)

2

I and II

32%

(33/103)

3

I and III

6%

(6/103)

4

I, II, and III

36%

(37/103)

5

II and III

4%

(4/103)

M1

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PREFERRED RESPONSE 4
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(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? Review Topic

QID: 106532
FIGURES:
1

Lymphedema

55%

(27/49)

2

Severe acne

6%

(3/49)

3

Increased serum estrogen levels

6%

(3/49)

4

Anatomical abnormality of the vaginal canal

14%

(7/49)

5

Subnormal intelligence

16%

(8/49)

M1

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PREFERRED RESPONSE 1

(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? Review Topic

QID: 106530
FIGURES:
1

Absent uterus

7%

(4/55)

2

Coarctation of the aorta

78%

(43/55)

3

Polycystic kidneys

4%

(2/55)

4

Tall stature

5%

(3/55)

5

'Elfin' facies

5%

(3/55)

M1

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PREFERRED RESPONSE 2

(M1.RP.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? Review Topic

QID: 107003
1

Mental retardation

15%

(8/52)

2

Macroglossia

0%

(0/52)

3

Micrognathia

2%

(1/52)

4

Cystic kidneys

8%

(4/52)

5

Streak ovaries

75%

(39/52)

M1

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PREFERRED RESPONSE 5

(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? Review Topic

QID: 106989
FIGURES:
1

Gynecomastia

7%

(2/27)

2

Rocker-bottom feet

0%

(0/27)

3

Elfin-facies

7%

(2/27)

4

Webbed neck

74%

(20/27)

5

Microcephaly

0%

(0/27)

M1

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PREFERRED RESPONSE 4
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