A case report of Turner's syndrome with ring X chromosome.
A case of Turner's syndrome with short stature and 45, XO/46, XXr mosaicism in chromosome study was presented. With special emphasis on endocrinological study, the size of the breasts was normal in contrast to the poor development of the breasts in most of types of Turner's syndrome. She showed normal thyroid function, slightly low level of urinary 17-OHCS, decreased 17-KS, poor response in metopirone test and poor response of HGH to insulin.
D015065:17-Hydroxycorticosteroids / Q000652:urine; D000324:Adrenocorticotropic Hormone; D000328:Adult; D001120:Arginine; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D003878:Dermatoglyphics; D005260:Female; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007328:Insulin; D008797:Metyrapone; D009030:Mosaicism; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics* / Q000503:physiopathology
D015065:17-Hydroxycorticosteroids; D007328:Insulin; D000324:Adrenocorticotropic Hormone; D013006:Growth Hormone; D001120:Arginine; D008797:Metyrapone