Pathology
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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Turner syndrome
Etiology

Karyotype: full monosomy X (45 X), often mosaic (e.g.45X/46XX)

Clinical signs
  • incidence 1 : 4000 livebirths
  • the incidence is not increased in advanced maternal age
  • up to 99% of 45 X conceptuses are spontaneously aborted
  • female habitus
  • normal intelligence
  • life expectancy is slightly shortened
  • clinical signs in a fetus:
    • prominent edema over the dorsum of the hands and feet
    • nuchal cystic hygroma
    • hydrops fetus universalis with effusions, pulmonary hypoplasia in some cases
  • main symptoms in late childhood and adolescence:
    • short stature
    • primary amenorrhea, sterility

Hydrops, edémy (73733)

Macroscopic appearance

Dysmorphic features and phenotype: broad webbed neck, broad chest with increased internipple distance, low hairline, swollen hands and feet in a newborn

Congenital malformations of the internal organs:

  • cardiovascular system:seen in 20% of cases, mainly
    • coarctation of the aorta
    • aortic valvular stenosis
    • hypoplastic left heart syndrome
  • kidneys: horseshoe kidney
  • ovaries: gonadal dysgenesis — the follicles progressively dissappear after 16 weeks of gestation and ovaries of a term infant are completely fibrotic without follicles (streak gonads)

Turner syndrome (74009)

Case study
Turner syndrome
Marta Ježová
History

Ultrasound examination in 20 w.g.: hydrops, nuchal hygroma 5 cm, pleural effusion, ascites. The aortic arch not visible, aortic atresia has been suspected.

Karyotype 45X.

Macroscopic appearance
  • 21-week fetus
  • hydrops fetus universalis
  • nuchal cystic hygroma
  • edema of dorsa of hands and feet
  • tubular hypoplasia of the aortic arch (coarctation)
  • horseshoe kidney

Edema (72710)

Hydrops, cystic hygroma (72711)