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Turner syndrome (ovarian agenesis)

Congenitally fibrotic ovary with X0 sex chromatin karyotype. Pathology: 1) coarctation of the aorta (18%) [7] 2) bicuspid aortic valve (30%) [7] 3) dilatation of the ascending aorta [3] Genetics: 1) 45X 2) 45X/46XX 3) 45X/46XY (associated with defects in SRY) 4) isochromosome Xq Clinical manifestations: 1) primary amenorrhea 2) short stature 3) webbed neck 4) shield-like chest 5) infantile female genitalia & breasts 6) delayed growth of axillary & pubic hair 7) cubitus valgus 8) short metacarpals 9) lymphedema of extremities Laboratory: 1) no Barr bodies in buccal mucosal cells or neutrophils 2) XO chromosomal karyotype - fetal monosomy X risk 3) elevated urinary gonadotropins Complications: - aortic dissection or rupture - high risk during pregnancy [5] Radiology: 1) osteoporosis 2) coarctation of the aorta Management: -> growth hormone for short stature [4]

Related

coarctation of the aorta gonadal dysgenesis XY Noonan's syndrome ovarian dysgenesis

General

gonadal dysgenesis genetic syndrome (multisystem disorder)

References

  1. DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 889
  2. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 380
  3. Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018.
  4. Journal Watch 22(9):73, 2002 Finkelstein et al Effect of growth hormone therapy on height in children with idiopathic short stature: a meta-analysis. Arch Pediatr Adolesc Med 156:230, 2002 PMID: 11876666
  5. Journal Watch 23(21):177, 2003 Karnis MF et al Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Fertil Steril 80:498, 2003 PMID: 12969688
  6. Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007 Oct 9;116(15):1663-70 PMID: 17875973
  7. Pinsker JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab. 2012 Jun;97(6):E994-1003. Review. PMID: 22472565