Clinical Features of Girls with Turner Syndrome in a Single Centre in Malaysia
Objective. Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition. In our study, we aim to examine the clinical features of all our Turner patients during the study period and at presentation.
Methodology. This was a cross sectional study. Thirty four Turner patients were examined for Turner-specific clinical features. The karyotype, clinical feature at presentation, age at diagnosis and physiologic features were retrieved from their medical records.
Results. Patients with 45,X presented at a median age of 1 month old with predominantly lymphoedema and webbed neck. Patients with chromosome mosaicism or structural X abnormalities presented at a median age of 11 years old with a broader clinical spectrum, short stature being the most common presenting clinical feature. Cubitus valgus deformity, nail dysplasia and short 4th/5th metacarpals or metatarsals were common clinical features occurring in 85.3%-94.1% of all Turner patients. Almost all patients aged ≥2 years were short irrespective of karyotype.
Conclusion. Although short stature is a universal finding in Turner patients, it is usually unrecognised till late. Unlike the 45,X karyotype, non-classic Turner syndrome has clinical features which may be subtle and difficult to discern. Our findings underscore the importance of proper serial anthropometric measurements in children. Awareness for the wide spectrum of presenting features and careful examination for Turner specific clinical features is crucial in all short girls to prevent a delay in diagnosis.
Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006; 91(10):3897–902. PMID: 16849410. https://doi.org/10.1210/jc.2006-0558.
Wolff DJ, Van Dyke DL, Powell CM. Laboratory guideline for Turner syndrome. Genet Med. 2010;12(1):52-5. PMID: 20081420. https://doi.org/10.1097/GIM.0b013e3181c684b2.
Gonzalez L, Witchel SF. The patient with Turner syndrome: Puberty and medical management concerns. Fertil Steril. 2012; 98(4):780-6. PMID: 22884020. PMCID: PMC3760009. https://doi.org10.1016/j.fertnstert.2012.07.1104.
Völkl TM, Degenhardt K, Koch A, Simm D, Dörr HG, Singer H. Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome the Erlangen experience. Clin Cardiol. 2005; 28:88–92. PMID: 15757080. https://doi.org/10.1002/clc.4960280209.
Carvalho AB, Guerra Júnior G, Baptista MT, de Faria AP, Marini SH, Guerra AT. Cardiovascular and renal anomalies in Turner syndrome. Rev Assoc Med Bras (1992). 2010;56(6):655-9. PMID: 21271130.
Mazzanti L, Cacciari E. Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr. 1998; 133(5):688-92. PMID: 9821430.
Al Alwan I, M K, Amir 1st, et al. Turner syndrome genotype and phenotype and their effect on presenting features and timing of diagnosis. Int J Health Sci (Qassim). 2014; 8(2):195-202. PMID: 25246887. PMCID: PMC4166992.
Völkl TM, Degenhardt K, Koch A, Simm D, Dörr HG, Singer H. Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome the Erlangen experience. Clin Cardiol. 2005;28(2):88-92.
Hagen CP, Main KM, Kjaergaard S, Juul A. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: Longitudinal study of 70 Turner girls with or without spontaneous puberty. Hum Reprod. 2010;25(12):3134–41. PMID: 20956269. https://doi.org/10.1093/humrep/deq291.
Leppig KA, Disteche CM. Ring X and other structural X chromosome abnormalities: X inactivation and phenotype. Semin Reprod Med. 2001;19(2):147-57. PMID: 11480912. https://doi.org/10.1055/s-2001-15395.
Migeon BR, Ausems M, Giltay J, et al. Severe phenotypes associated with inactive ring X chromosomes. Am J Med Genet. 2000;93(1):52–7. PMID: 10861682.
Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumors in the intersex gonad: Old paths, new directions, moving frontiers. Endocr Rev. 2006;27(5):468-84. PMID: 16735607. https://doi.org/10.1210/er.2006-0005.
Craig ME, Jefferies C, Dabelea D, et al. ISPAD Clinical practice concensus guidelines 2014. Definition, epidemiology, and classification of diabetes in children and adolescents. Paediatric Diabetes 2014;15 (Suppl. 20):4-17. PMID: 25182305 https://doi.org/10.1111/pedi.12186.
Blaschke RJ, Rappold GA. SHOX: Growth, Léri-Weill and Turner syndromes. Trends Endocrinol Metab. 2000;11(6):227-30. PMID: 10878753.
Zinn AR. Growing interest in Turner syndrome. Nat Genet. 1997;16(1):3-4. PMID: 9140381. https://doi.org/10.1038/ng0597-3.
Watanabe M, Zinn AR, Page DC, Nishimoto T. Functional equivalence of human X- and Y- encoded isoforms of ribosomal protein S4 consistent with a role of Turner syndrome. Nat Genet. 1993;4(3):268-71. PMID: 8358435. https://doi.org/10.1038/ng0793-268.
Sybert VP. Cardiovascular malformations and complications in Turner syndrome. Paediatrics. 1995;101(1):E11. PMID: 9417175.
V.B. Ho, V.K. Bakalov, M. Cooley et al. Major vascular anomalies in turner syndrome. prevalence and magnetic resonance angiographic features. Circulation 2004;110(12):1694-700. PMID: 15353492. https://doi.org/10.1161/01.CIR.0000142290.35842.B0.
Hu N, Christensen DA, Agrawal AK, Beaumont C, Clark EB, Hawkins JA Dependence of aortic arch morphogenesis on intracardiac blood flow in the left atrial ligated chick embryo. Anat Rec (Hoboken). 2009;292(5):652–60. PMID: 19322826. https://doi.org/10.1002/ar.20885.
Kosztolányi G, Méhes K, Hook EB. Inherited ring chromosomes: An analysis of published cases. Hum Genet. 1991;87(3):320-4. PMID: 1864607.
Uehara S, Nata M, Obara Y, Niinuma T, Funato T, Yajima A. A Turner syndrome woman with a ring X chromosome (45,X/46,Xr(X) (p22.3q27)) whose child also has a ring X chromosome. Fertil Steril. 1997;67(3):576-9. PMID: 9091352.
Blumenthal AL, Allanson JE. Turner syndrome in a mother and daughter: r(X) and fertility. Clin Genet. 1997;52(3):187-91. PMID: 9377811.
Mazzaschi RLP, Taylor J, Robertson SP, Love DR, George AM. A turner syndrome patient carrying a mosaic distal x chromosome marker. Case Reports in Genetics. 2014;Article ID 597314. https://doi.org/10.1155/2014/597314.
Sybert VP, McCauley E. Turner’s Syndrome. N Engl J Med. 2004;351(12):1227-38. PMID: 15371580. https://doi.org/10.1056/NEJMra030360.
Sävendahl L, Davenport ML. Delayed diagnoses of Turner's syndrome: Proposed guidelines for change. J Pediatr. 2000;137(4):455–9. PMID: 11035820. https://doi.org/10.1067/mpd.2000.107390.
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