Updated: 5/30/2021

Turner Syndrome

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Overview
Snapshot
  • A 19-year-old female presents to the gynecologist for the first time. She reports that she has not started to menstruate. The OB/GYN notes that the patient is short-statured and has notably delayed breast development with webbing skin between the neck and shoulders.
Introduction
  • Genetic disorder caused by a missing X chromosome in females (45XO) 
  • Most common cause of primary amenorrhea (uterus present)
  • Most patients are infertile
  • Associated with greater risk for developing co-morbities including
    • cardiac problems
      • hypertension
      • coarctation of the aorta  
      • aortic valve abnormalities (e.g. bicuspid aortic valve)
    • renal dysfuncton
      • horseshoe kidney
    • diabetes
    • cystic hygroma
    • cataracts
    • osteoporosis
    • thyroid problems
Presentation
  • Symptoms
    • amenorrhea
    • short stature
    • webbed neck
  • Physical exam
    • amenorrhea with present uterus
    • coarctation of the aorta may be evident on auscultation
    • low hairline in back
    • low-set ears
    • extremity edema
    • shortened fourth and fifth metacarpals 
    • hypertension
    • signs of thyroid dysfunction
    • stool guaiac may identify GI bleeding
Evaluation
  • Diagnosis is based primarily on physical exam and patient history
  • Buccal smear for absent Barr bodies is outdated diagnostic method
  • Labs 
    • low anti-Mullerian hormone
  • Karyotype analysis
    • diagnostic test of choice
    • may identify 45XO, confirming diagnosis
  • Fertility testing
    • may identify 45XO, confirming diagnosis
  • Endoscopy
    • may identify GI telangiectasias causing lower GI bleeding
Differential
  •  Down syndrome, polycystic ovarian disorder
Treatment
  • Medical management
    • Growth hormone
      • may help patient achieve normal height
    • Estrogen/progesterone hormone replacement
      • allows development of secondary sex characteristics
      • may aid fertility
    • IVF
      • may assist in reproduction
Prognosis, Prevention, and Complications
  • Prognosis
    • good to very good with appropriate treatment
    • most patients live complete lives
  • Prevention
    • no preventive measures are available for this condition
  • Complications
    • coarctation of the aorta, ovarian dysgenesis, GI telangiectasias

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(M3.PD.16.79) An 18-year-old female presents for evaluation of amenorrhea and short stature. She brings in a photograph of herself (Figure A) to show you how little she has grown in the past several years. What test should be used to confirm the suspected diagnosis?

QID: 104621
FIGURES:
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Thyroid stimulating hormone (TSH) test

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Echocardiogram

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Karyotype analysis

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Cardiac magnetic resonance imaging (MRI)

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Pregnancy test

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M 10 B

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