What are the guideline sources, guidelines and references for Turner syndrome ?
Guideline sources The following summarized guidelines for the evaluation and management of turner syndrome (TS) are prepared by our editorial team based on guidelines from the European Society of Endocrinology (ESE/ES 2017) and the Society for Cardiovascular Angiography and Interventions (SCAI/STS/SVM/AATS/SCA/AHA/ACR/ACC/ASA/SIR 2010). 1 2 Guidelines 1. Screening and diagnosis Diagnostic criteria: consider a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS. B Indications for screening: consider applying the new general surveillance management guideline to TS patients with any karyotype. C Indications for testing: Consider testing for TS in a female with typical signs. B https://web.pathway.md/diseases/recYccuPnCwnKsovH 1/5 6/24/23, 4:09 PM Turner syndrome Pathway Consider testing for TS in a female with typical signs. Consider testing for TS in a female fetus or child with a bicuspid aortic valve or left-sided obstructive cardiac lesion. C 2. Diagnostic investigations Cardiac and aortic workup: As per ES 2017 guidelines, obtain TTE at the time of diagnosis, even if the fetal echocardiogram or postnatal cardiac examination was normal. B As per AHA 2010 guidelines: Obtain imaging of the heart and aorta for evidence of bicuspid aortic valve, coarctation of the aorta, or dilatation of the ascending thoracic aorta in patients with TS. B Consider obtaining imaging of the heart and aorta to help determine the risk of aortic dissection in patients with TS with additional risk factors, including bicuspid aortic valve, coarctation of the aorta, and/or hypertension, and in pregnant patients (or attempting pregnancy). C Renal imaging: obtain a renal ultrasound at the time of diagnosis. A 3. Medical management GH treatment: initiate GH treatment early, around 4-6 years of age, and preferably before 12-13 years, in patients with evidence of growth failure, in those who are already short, and in those who have a strong likelihood of short stature. B Androgen treatment: consider concomitant treatment with oxandrolone in patients 10 years of age, if the diagnosis of TS and therefore GH treatment initiation is delayed, and/or adult height outcome is likely to be unsatisfactory with the standard GH dose alone. B Estrogen and progesterone treatment: consider avoiding routine very-low-dose estrogen supplementation in the prepubertal years to further promote growth. D Management of hypertension: Perform annual assessment of BP and consider medical treatment if hypertension is present in individuals without structural heart disease. Consider including a -blocker, an ARB, or both, to reduce the risk for aortic dissection in women with TS 16 years of age with an aortic size index 2.3 cm/m . B Consider medical treatment, including a -blocker, an ARB, or both, to reduce dilatation of an enlarged aortic root and/or ascending aorta in patients 16 years of age with an ascending aorta Turner-specific Z-score 3.0. C Monitoring of QTc interval: consider avoiding drugs that prolong the QTc in individuals with prolonged QTc. If they are deemed necessary, perform ECG 1-2 weeks after initiation of QT- prolonging drugs. D https://web.pathway.md/diseases/recYccuPnCwnKsovH 2/5 6/24/23, 4:09 PM Turner syndrome Pathway 4. Nonpharmacologic interventions Physical activity restrictions: consider the function of the aortic valve and the presence of any other congenital heart disease and/or hypertension in determining participation recommendations for the athlete with Turners's syndrome and aortic dilation. C Edema management: assess any serious compromise of fingernails, toenails or extremity skin at any age and refer to a professional edema therapist for treatment. B 5. Surgical interventions Gonadectomy: consider gonadectomy in all female individuals with Y chromosome material identified on standard karyotyping. C Aneurysm repair: As per ES 2017 guidelines: Consider performing elective operations for aneurysm of the aortic root and/or ascending aorta in 16 years old patients with TS with an ascending aortic size index 2.5 cm/m with or without associated risk factors for aortic dissection (including bicuspid aortic valve, elongation of the transverse aorta, coarctation of the aorta, and/or hypertension). C Consider performing elective operations for aneurysm of the aortic root and/or ascending aorta in < 16 years old patients with TS with an ascending aorta Turner-specific Z-score of 4.0, with or without associated risk factors for aortic dissection (including bicuspid aortic valve, elongation of the transverse aorta, coarctation of the aorta, and/or hypertension). C 6. Specific circumstances Pregnancy in Turner's syndrome: manage pregnant women with TS with the help of a multidisciplinary team including maternal-fetal medicine specialists and cardiologists with expertise in managing women with TS. B Show 16 more Pediactric transition to adult care: implement a planned and staged transition process in early adolescence for the patients with TS. B 7. Patient education Turner's syndrome and fertility: counsel females with TS that their probability to conceive spontaneously decrease rapidly with age, if at all present, and consider offering fertility treatment at a young age. A Indications to seek urgent care: counsel girls or women with aortic dilatation and/or bicuspid aortic valve to seek prompt evaluation if they are experiencing acute symptoms consistent with https://web.pathway.md/diseases/recYccuPnCwnKsovH 3/5 6/24/23, 4:09 PM Turner syndrome Pathway aortic dissection, such as chest, neck, shoulder, back or flank discomfort, particularly if it is sudden in onset and severe. B 8. Follow-up and surveillance Follow-up cardiac imaging: as per AHA 2010 guidelines, perform repeat imaging every 5 to 10 years or if otherwise clinically indicated if initial imaging is normal and there are no risk factors for aortic dissection. If abnormalities exist, perform annual imaging or follow-up imaging. B Hearing loss prevention: perform a formal audiometric evaluation every 5 years regardless of the initial age at diagnosis, initial hearing threshold levels, karyotype and/or presence of a mid- frequency sensorineural hearing loss, to assure early and adequate technical and other rehabilitative measures. B Preventing hypothyroidism: screen for hypothyroidism at diagnosis and then annually with T4 and TSH measurements beginning in early childhood and throughout the lifespan. B Monitoring health and nutrition: consider healthy nutrition and physical activity counseling starting in early childhood. C Dental care: perform dental/orthodontic evaluation at diagnosis if no previous dental/orthodontic care was established. Base future management and follow-up on the standard of dental/orthodontic care, individual clinical findings and patient needs. B Ophthalmological care: perform a comprehensive ophthalmological examination between 12 and 18 months of age or at the time of diagnosis, if at an older age, with emphasis on early correction of refractive errors. B Orthopedic considerations: perform clinical evaluation for scoliosis every 6 months during GH therapy or otherwise annually until growth is completed. B Serial screening for celiac disease: screen for celiac disease by measurement of transglutaminase antibodies beginning at 2-3 years of age at a frequency of every 2 years throughout childhood and with any suggestive symptoms in adulthood. B Monitoring liver function: monitor liver enzymes (including aspartate transaminase, alanine transaminase, GGT, and ALP) yearly, starting at 10 years of age. B Health surveillance: refer girls and women with TS to specialist interdisciplinary or multidisciplinary clinics for health surveillance. B Neurocognitive and behavioral aspects: integrate neuropsychology and allied behavioral health services into the care of girls and women with TS. B References 1. Gravholt CH, Andersen NH, Conway GS et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 Sep;177 3 G1 G70. Open https://web.pathway.md/diseases/recYccuPnCwnKsovH 4/5 6/24/23, 4:09 PM Turner syndrome Pathway 2. Hiratzka LF, Bakris GL, Beckman JA et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010 Apr 6;121 13):e266 369. Open 3. Eric M Isselbacher, Ourania Preventza, James Hamilton Black rd et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022 Nov 2. 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