Turner syndrome and its variants

Abstract

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.

Turner Syndrome: Fifteen Years’ Experience in India

“…Unlike the findings of Bharath et al [3], we found no clinically meaningful differences between classic TS karyotype patients and others. This underscored the need for further research to elucidate phenotype-genotype correlations.…”

“…Data regarding clinical course and cytogenetics of Indian patients with TS were scarce. We found 2 clinical series with 45 and 24 patients [2,3] and one article [4] dealt with the results of growth hormone treatment on Indian TS patients. In view of this paucity of Indian data, we searched our database from 1996 to 2010 and came up with 35 patients of TS, whose results are incorporated in this presentation.…”

Medulloblastoma and secondary acute myeloid leukemia in a patient with Turner syndrome

“…This care report adds to existing published data regarding patients with Turner syndrome who have developed medulloblastoma . Further research is needed regarding increased incidence of malignancy in patients with Turner syndrome as well as pediatric treatment‐related myelodysplastic syndromes/AMLs.…”

The processing of number scales beyond whole numbers in development: Dissociations in arithmetic in Turner’s syndrome

“…Approximately half of females with TS are diagnosed with the classic 45XO and the other half with some other karyotype, including mosaicism (45XO/46XX), isochromosome of Xq, ring X, marker chromosome X, and Y chromosome fragment (Bharath et al, 2010;Gadhia et al, 2014). Females with TS have a physical profile that includes among other characteristics short stature, lack of estrogen, absence of secondary sexual characteristics and infertility (Turner, 1938).…”