Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome.
Isochromosome involving the long arm of X chromosome is a rare structural rearrangement of the X chromosome, leading to Gonadal dysgenesis. These patients present as phenotypic females with amenorrhea and growth failure. Often other associated features like endocrine abnormalities and skeletal deformities are found. They are chromatin positive cases and are only diagnosed by karyotyping. Hashimoto's thyroiditis is a rare association with isochromosome X.
Dept. of Endocrinology, Medical College, 88, College Street, Kolkata-700073.
Asish Kumar
AK
Basu
Dept. of Medicine, Medical College, 88, College Street, Kolkata-700073.
Rudrajit
R
Paul
Dept. of Endocrinology, Medical College, 88, College Street, Kolkata-700073.
Ramtanu
R
Bandyopadhyay
Department of Pathology, IPGMER and SSKM Hospital, 244, Acharya Jagadish Chandra Bose Road, Kolkata-700020.
Srabani
S
Chakrabarti
D000293:Adolescent; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006059:Gonadal Dysgenesis / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping