Turner syndrome: รายงานผู้ป่วย 1 ราย
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Turner syndrome เป็นกลุ่มอาการทางพันธุกรรมที่เกิดจากความผิดปกติของโครโมโซมเพศโดยมีการ ขาดหายไปบางส่วนหรือทั้งหมดของโครโมโซม X ผู้ป่วยส่วนใหญ่มักได้รับการวินิจฉัยในช่วงเริ่มเข้าสู่วัยรุ่น หรือเข้าวัยรุ่นแล้ว โอกาสตรวจพบในช่วงแรกเกิดมักมีจำนวนน้อย ผู้รายงานนำเสนอผู้ป่วยทารกแรกเกิด 1 ราย ที่มีน้ำหนักตัวน้อย และได้รับการวินิจฉัยว่าเป็น Turner syndrome ที่โรงพยาบาลพิมาย โดยได้รับการตรวจยืนยัน ด้วยผลการศึกษาโครโมโซม
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References
Doswell BH, Visootsak J, Brady AN, Graham JM JR. Turner Syndrome: An Update and Review for the Primary Pediatrician. ClinPediatr 2006; 45: 301-13.
Ranke MB, Saenger P. Turner’s syndrome. Lancet 2001; 358: 309-14.
Stockholm, K, Juul, S, Juel, K, Naeraa, RW, Gravholt, CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J ClinEndocrinolMetab 2006; 91: 3897-902.
Marino BS. (2013). Blueprints Pediatrics, 6thed. Philadelphia: Wolters Kluwer/Lippincott Williams&Wilkins. p. 319.
McCarthy K, Bondy CA. Turner syndrome in childhood and adolescence. Expert Rev Endocrinol- Metab 2008; 3: 771-5.
Turner HHA. Syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinol 1938; 23: 556-74.
Kansra AR, Donohoue PA. Hypofunction of the Ovaries. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF. Nelson Textbook of Pediatrics. 20th ed. Canada: Elsevier, 2015: 2743-9.
Barbara RM, Carolyn AB, Karen RR. 3 perspectives on Turner's syndrome. Endocrine News. 2007; 8: 12–9.
Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner’s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983; 64: 24-7.
Bondy CA; Turner syndrome consensus study group. Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J ClinEndocrinolMetab 2007; 92: 10-25.
Wisniewski A, Milde K, Stupnicki R. Fetal dystrophy-one of the feature of Turner syndrome. EndokrynolDiabetolChorPrzemianyMateriiWiekuRozw 2005; 11: 177-80.
Wisniewski A, Milde K, Stupnicki R, Szufladowicz-Wozniak J. Weight deficit at birth and Turner's syndrome. J PediatrEndocrinolMetab 2007; 20: 607-13.
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997; 16: 54-63.
Ellison JW, Wardak Z, Young MF, GehronRobey P, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 1997; 6: 1341-7.
Boucher CA, Sargent CA, Ogata T, Affara NA. Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema. J Med Genet 2001; 38: 591-8.
Clark EB. Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome. Teratol 1984; 29: 355-61.
Loscalzo ML, Van PL, Ho VB, Bakalov VK, Rosing DR, Malone CA, et al. Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome. Pediatr 2005; 115: 732-5.
Ho VB, Bakalov VK, Cooley M, Van PL, Hood MN, Burklow TR, et al. Major Vascular Anomalies in Turner syndrome-Prevalence and Magnetic Resonance Angiographic Features. Circulation 2004; 110: 1694-700.
Gotzsche CO, Krag-Olsen B, Neilsen J, Sorensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotype of Turner’s syndrome. Arch Dis Child 1994; 71: 433-6.
Mazzanti L, Cacciari E. Congenital heart disease in patients with Turner’s syndrome. Italian Study Group for Turner syndrome (ISGTS). J Pediatr 1998; 133: 688-92.
Sybert VP. Cardiovascular malformations and complications in Turner syndrome.Pediatrics 1998; 101: E11.
Carvalho AB, Guerra Júnior G, Baptista MT, de Faria AP, Marini SH, Guerra AT. Cardiovascular and renalanomalies in Turner syndrome. Rev Assoc Med Bras 2010; 56: 655-9.
Bilge I, Kayserili H, Emre S, Nayir A, Sirin A, Tukel T, et al. Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children. Pediatr Nephrol 2000; 14: 1111-4.
Frías JL, Davenport ML. Committee on Genetics, Section on Endocrinology. Health Supervision for Children with Turner Syndrome. Pediatrics 2003; 111: 692-702.
Sas TC, Gault EJ, Bardsley MZ, Menke LA, Freriks K, Perry RJ, et al. Safety and efficacy of oxandrolone in growth hormone-treated girls with Turner syndrome: evidence from recent studies and recommendations for use. Horm Res Paediatr 2014; 81: 289-97.
Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G. Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s Syndrome. J ClinEndocrinolMetab 1997; 82: 1810-3.