Turner syndrome (ovarian agenesis)
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Introduction
Congenitally fibrotic ovary with X0 sex chromatin karyotype.
Pathology
- coarctation of the aorta (18%)[7]
- bicuspid aortic valve (30%)[7]
- dilatation of the ascending aorta[3]
Genetics
- 45X
- 45X/46XX
- 45X/46XY (associated with defects in SRY)
- isochromosome Xq
Clinical manifestations
- primary amenorrhea
- short stature
- webbed neck
- shield-like chest
- infantile female genitalia & breasts
- delayed growth of axillary & pubic hair
- cubitus valgus
- short metacarpals
- lymphedema of extremities
Laboratory
- no Barr bodies in buccal mucosal cells or neutrophils
- XO chromosomal karyotype
- elevated urinary gonadotropins
Radiology
- bone density
- echocardiography
- coarctation of the aorta (18%)
- bicuspid aortic valve (30%)[7]
- dilatation of the ascending aorta (thoracic aortic aneurysm)
- cardiac magnetic resonance imaging
- indicated in addition to echocardiography
- provides a more comprehensive assessment of the thoracic aorta[2]
Complications
Management
More general terms
Additional terms
References
- ↑ DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 889
- ↑ 2.0 2.1 Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 380
- ↑ 3.0 3.1 Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018.
Medical Knowledge Self Assessment Program (MKSAP) 20 American College of Physicians, Philadelphia 2025 - ↑ 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://pubmed.ncbi.nlm.nih.gov/11876666
- ↑ 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://pubmed.ncbi.nlm.nih.gov/12969688
- ↑ 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://pubmed.ncbi.nlm.nih.gov/17875973
- ↑ 7.0 7.1 7.2 7.3 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://pubmed.ncbi.nlm.nih.gov/22472565