Turner syndrome and its variants
Publication Type:Journal Article
Source:Indian Journal of Pediatrics, Volume 77, Number 2, p.193-195 (2010)
Keywords:adolescent, adult, aorta coarctation, article, bicuspid aortic valve, chronic suppurative otitis media, clinical article, clinical feature, controlled study, female, Genetic Variation, Growth Hormone, high arched palate, human, Humans, hypothyroidism, karyotype, karyotyping, kidney malformation, levothyroxine, medulloblastoma, pigmented nevus, primary amenorrhea, secondary amenorrhea, thyrotropin, thyrotropin blood level, Thyroxine, Turner syndrome
Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients had classic Turner karyotype (Group 1) and 13 patients had karyotype suggestive of one of the variants of Turner syndrome (Group 2). There was a median difference of 3 years between the age of presentation and the age of diagnosis in Group 2. Out of the thirteen patients in Group 2, 4 had no clinical stigmata of Turner Syndrome; the rest (n=9) had one or more of the typical clinical stigmata of Turner Syndrome. One patient with a complex mosaic karyotype also had an intracranial medulloblastoma. One patient in each group had coarctation of the aorta. 5 patients in Group 1 and 3 patients in Group 2 had primary hypothyroidism and received levothyroxine. The median Thyroid Stimulating Hormone levels were significantly higher among patients in group 1 than in group 2. © 2010 Dr. K C Chaudhuri Foundation.
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