The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

Abstract Introduction Turner syndrome is a genetic disorder in females and the result of complete or partial loss an X chromosome during fertilization. The missing originally either from mother's ovum father's sperm cell. Approximately 45% patients have 45,X karyotype rest other variants syndrome, which are mosaicism patterns structural abnormalities chromosome. Here, we report case that fifth with balanced Robertsonian translocation (13;14)(q10;q10), sixth 44,X chromosomes, reported literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, complaint failure thrive short height. She had been examined investigated endocrinologists since age 4 years, but no definite diagnosis made. At time presentation, she through three provocative growth hormone tests on medications for about year. Her physical examination revealed mild retrognathia micrognathia. Initially, started somatropin treatment which, after 12 months, did not appropriately improve height velocity. Therefore, more thorough performed, high arched palate low posterior hairline were observed. There also difference between target patient standard deviation scores. Karyotype study requested, confirmed. Conclusion this straightforward, both because somatic presentations obvious, physicians looked them when performing examinations. This introduces rare highlights value using scores as simple inexpensive tool syndrome.