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AN INTERESTING CASE OF RARE VARIANT OF TURNER'S SYNDROME

Journal: University Journal of Medicine and Medical Specialities (Vol.4, No. 1)

Publication Date:

Authors : ;

Page : 141-143

Keywords : Turner's syndrome; mosaicism; primary amenorrhoea; thyroiditis; otitis media;

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Abstract

In 1938 Henry Turner described TURNER'S SYNDROME. Turner syndrome also referred as ULLRICH TURNER'S SYNDROME is a genetic disorder in which as X-chromosome is missing or structurally abnormal and is not caused by growth hormone deficiency. second most common form of sex chromosome aneuploidy, with an incidence of 12500.Most common form of hypergonodotrophic hypogonadism in females.50 classical form(45 x karyotype), 25(mosaic form),25(structural abnormality ),Incidence of 45X47XXX Mosaicism 1.we are reporting a case of TURNER'S SYNDROME with features of short stature, short neck, shield chest, otitis media, primary amenorrhoea, thyroiditis, absent secondary sexual character(absent pubic axillary hair)this mosaicism of 45x47xxx,rare variant of Turner's syndrome clinical features rarely reported with this syndrome

Last modified: 2018-01-08 15:02:24