A rare case of male Turner syndrome for penetrating keratoplasty
Keywords:Turner syndrome, Genetic, Difficult airway
Turner syndrome (TS) is a complex genetic disorder. These abnormalities especially those relating to the airway and cardiovascular system, pose a challenge to the anaesthesiologist. The main anatomo-physiological changes pertaining to the anaesthesiologist include a short neck, maxillary and mandibular hypoplasia which might be responsible for difficult airway. The shorter length of trachea as well as higher location of its bifurcation predispose to bronchial intubation and accidental endotracheal extubation when tracheal cannula is under traction. The presence of cardiopathies, endocrine and gastro intestinal disorders, liver and kidney changes as well as osteoarticular involvement besides ophthalmologic and hearing impairments are very frequent and should be detected during pre-anaesthetic evaluation. The incidence of TS is variously reported as 1:3000 to 1:10000 live (female) births. Very few cases of male turner have been reported in literature.
45, X/46,XY including Y chromosome rearrangements. Available at: http://www.rare-chromo.org/information/Chromosome_Y/45X%2046XY%20including%20Y%20chromosome%20rearrangements%20FTNW.pdf. Accessed on 4 August 2017.
Goodman RM, Gorlin RJ. The face in genetic disorders. St.Louis: C.V. Mosby Co; 1970: 168-169.
Vaughan VC, McKay RJ, Behronan R. Nelson’s Text Book of Paediatrics. 11th ed. Philadelphia: W.B. Sanders Co; 1979: 366-367.
45,X/46,XY Mosaicism: Report of 27 Cases (http://pediatrics.aappublications.org/content/104/2/304.short). Pediatrics. 1999;104(2):304-8.
Lindhardt JM, Hagen CP, Rajpert-De Meyts E, et al. 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function - a retrospective longitudinal study. Clin Endocrinal Metab. 2012;97(8):1540-9.
Kim KR, Kwon Y, Joung JY, Kim KS, Ayala AG, Ro JY. True hermaphroditism and mixed gonadal dysgenesis in young children: a clinicopathologic study of 10 cases. Mod Pathol. 2002;15(10):1013-9.
Chang HJ, Clark RD, Bachman H (1990). "The Phenotype of 45, X/46, XY mosaicism: An analysis of 92 prenatally diagnosed cases". Am J Human Genetics. 1990;46(1):156-67.
Hsu LY. Prenatal diagnosis of 45,X/46,XY mosaicism - a review and update. Prenat Diagn. 1989;9(1):31-48.
Efthymiadou A, Stefanou EG, Chrysis D. 45,X/46,XY mosaicism a cause of short stature in males. Hormones (Athens). 2012;11(4):501-4.