Turner syndrome (ovarian agenesis)

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Introduction

Congenitally fibrotic ovary with X0 sex chromatin karyotype.

Pathology

Genetics

  • 45X
  • 45X/46XX
  • 45X/46XY (associated with defects in SRY)
  • isochromosome Xq

Clinical manifestations

Laboratory

Radiology

Complications

Management

More general terms

Additional terms

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. 3.0 3.1 Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018.
  4. 4.0 4.1 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: https://www.ncbi.nlm.nih.gov/pubmed/11876666
  5. 5.0 5.1 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: https://www.ncbi.nlm.nih.gov/pubmed/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: https://www.ncbi.nlm.nih.gov/pubmed/17875973
  7. 7.0 7.1 7.2 Pinsker JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab. 2012 Jun;97(6):E994-1003. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/22472565

Patient information

Turner syndrome patient information