pediatrics
Turner Syndrome
Diagnosis of Turner Syndrome
Physical examination Cytogenetic testing by karyotyping, fluorescent in situ hybridization (FISH) analysis, and/or chromosomal microarray analysis Testing for associated conditions In neonates, the diagnosis of Turner syndrome may be suspected based on the presence of lymphedema or a webbed neck. In the absence of these findings, some children are diagnosed later, based on short stature, lack of pubertal development, and amenorrhea. Diagnosis is confirmed by cytogenetic analysis (karyotyping, FISH analysis, and/or chromosomal microarray analysis). (See also Diagnosis .) Echocardiography or MRI is indicated to detect cardiac anomalies and for ongoing surveillance. Cytogenetic analysis and Y-specific probe studies are done for all people with gonadal dysgenesis to rule out mosaicism with a Y-bearing cell line (eg, 45,X/46,XY). These people are usually phenotypic females who may have variable features of Turner syndrome. They are at an increased risk of gonadal tumors, especially gonadoblastomas, some of which may become malignant. Because of this potential for cancer, prophylactic gonad removal, although controversial, is often recommended. Certain routine evaluations help identify problems that may be associated with Turner syndrome ( Diagnosis reference ): Cardiology evaluation with echocardiography and ECG at time of diagnosis, and ongoing evaluation to monitor for conduction abnormalities and aortic dilation Renal ultrasonography at time of diagnosis, annual urinalysis, bloodureanitrogen, and creatinine for patients with renal system anomalies Hearing evaluation by an audiologist and audiogram every 3 to 5 years Evaluation for Diagnosis / Developmental Dysplasia of the Hip (DDH) None Ophthalmology evaluation at age 12 to 18 months or at time of diagnosis; annual evaluation thereafter Thyroid function tests at diagnosis and annually thereafter Diagnosis (eg, endomysial antibody levels) Annual screening for glucose intolerance starting at age 10 years 1.Shankar RK, Backeljauw PF: Current best practice in the management of Turner syndrome.Ther Adv Endocrinol Metab9(1):33–40, 2018. doi: 10.1177/2042018817746291 