Management of Turner syndrome in adults

INTRODUCTION — 

Turner syndrome is one of the most common chromosomal anomalies in humans and represents an important cause of short stature and primary ovarian insufficiency (POI; early menopause) in females. It is caused by loss of part or all of an X chromosome, either without (eg, 45,X) or with cell line mosaicism (eg, 45,X/46,XX).

This topic will review the management of adult females with Turner syndrome. The clinical manifestations and diagnosis of Turner syndrome and management in children and adolescents are reviewed separately. (See "Turner syndrome: Clinical manifestations and diagnosis" and "Management of Turner syndrome in children and adolescents".)

TRANSITION TO ADULT CARE — 

The transition period is an important and challenging period for patients with Turner syndrome. Loss to follow-up is common, leading to insufficient monitoring of comorbidities and lack of estrogen therapy or other interventions [1-3].

A toolkit to assist with the transition to adult care was developed by the Endocrine Society and includes forms for assessing patient readiness, knowledge and skills, general recommendations to the adult-care provider, and a summary of screening recommendations (table 1) [4-7].

As patients transition to adult providers, communication and counseling should be tailored to the patient's maturity level and is ideally achieved by a multidisciplinary specialty team that includes adult and pediatric endocrinology, mental health, and obstetrics and gynecology providers [8-11]. In one retrospective cohort study of 82 patients with Turner syndrome receiving care at a multidisciplinary specialty clinic, patients were more likely to be started on estrogen therapy and have comorbidities identified than similar females receiving care at primary care facilities [11].

Important issues to discuss with the patient during the transition period include:

●Potential long-term complications of Turner syndrome, especially cardiovascular disease and hearing loss, and need for ongoing monitoring.

●Reproductive issues, including fertility options and potential risks of pregnancy. (See 'Management of fertility and pregnancy' below.)

●Strategies and resources for managing learning difficulties, which, if present, continue into adult life. These resources may include educational consulting and support and vocational counseling [12]. (See "Management of Turner syndrome in children and adolescents", section on 'Cognitive function and learning disabilities'.)

●Resources for psychosocial support. The team should specifically encourage the patient to engage with Turner syndrome support groups for emotional support and to help empower the patient to stay engaged with their health maintenance [13]. (See "Management of Turner syndrome in children and adolescents", section on 'Resources and information'.)

APPROACH TO THE ADULT PATIENT WITH TURNER SYNDROME

Goals — The overarching goals of caring for the adult patient with Turner syndrome include [7]:

●Management of cardiovascular disorders (congenital and noncongenital), as well as continued surveillance to monitor for valvular disease and to detect aortic root dilatation or other cardiovascular anomalies (algorithm 1 and table 2). (See 'Cardiovascular health' below.)

●Long-term treatment with estrogen-progesterone therapy to prevent adverse consequences of estrogen deficiency including bone loss and a possible increased risk for early coronary heart disease, excess mortality, cognitive decline, and dementia. (See 'Hormone therapy' below.)

●Management of fertility issues and potential for pregnancy if desired (which may be associated with a high risk of cardiac complications). (See 'Management of fertility and pregnancy' below.)

●Surveillance for and management of comorbidities that may include autoimmune thyroid disease, obesity, type 2 diabetes mellitus, hearing loss, and abnormal liver enzymes/nonalcoholic fatty liver disease (table 3) [14]. (See 'Surveillance for comorbidities' below.)

Cardiovascular health — Cardiovascular disease presents the most serious health problem for adult females with Turner syndrome and substantially contributes to the increased mortality rates for affected individuals. The morbidity and mortality are due to an increased prevalence of cardiovascular malformations, compounded by kidney abnormalities and hypertension, plus an increased risk for aortic dilatation and dissection [15]. (See "Turner syndrome: Clinical manifestations and diagnosis", section on 'Cardiovascular abnormalities'.)

Monitoring/surveillance — Ideally, all patients with Turner syndrome, especially those with previously identified cardiac anomalies, should have ongoing care with a cardiologist, preferably one who has expertise in congenital heart disease [15,16]. (See "Turner syndrome: Clinical manifestations and diagnosis", section on 'Cardiovascular abnormalities'.)

Blood pressure should be monitored annually, and patients should undergo a full cardiac examination. Repeat imaging with echocardiography and/or cardiac magnetic resonance (CMR) imaging is suggested periodically throughout life to monitor for the development and/or progression of ascending aortic dilatation. Aortic dissection or rupture is an important cause of death in women with Turner syndrome, and the risk is predicted by measuring the ascending aortic diameter. Because patients with Turner syndrome are typically smaller than their general population peers, the measured aortic diameter should be indexed according to body size [7].

Patients with known aortic dilatation and those with risk factors for dissection (eg, hypertension, coarctation of the aorta, and/or bicuspid aortic valve) should undergo more frequent monitoring [13]. However, routine surveillance is suggested for all women with Turner syndrome since aortic dissection can occur even in the absence of these risk factors. Despite increased efforts, it appears that more than one-half of individuals with Turner syndrome are not adequately informed about the need for ongoing monitoring, even in the absence of cardiovascular symptomatology [17]. (See 'Cardiovascular health' above.)

The use of molecular genetic studies may help identify at-risk patients. TIMP1 and TIMP3 are risk genes for bicuspid aortic valve and aortopathy in Turner Syndrome. [18].

In addition, imaging studies are recommended before attempting pregnancy and/or if hypertension develops (table 2) [13,19,20]. (See 'Management of fertility and pregnancy' below.)

An overview of the management of aortic dilatation, including management before and during pregnancy, is discussed separately. (See "Management of Turner syndrome in children and adolescents", section on 'Hypertension' and "Management of thoracic aortic aneurysm in adults" and "Management of coarctation of the aorta".)

Females with Turner syndrome are also at substantially increased risk for noncongenital cardiovascular disease, which is an important contributor to their excess mortality. Therefore, all females should have close monitoring and vigorous intervention for cardiovascular risk factors, including hypertension, dyslipidemia, prediabetes, or diabetes mellitus. (See 'Mortality' below and 'Surveillance for comorbidities' below and "Turner syndrome: Clinical manifestations and diagnosis", section on 'Cardiovascular abnormalities'.)

Management

Aortic dilatation — If serial imaging shows a marked increase in aortic diameter that leads to an ASI >95^th to 99^th percentile (≥2.3 cm/m²), patients should be evaluated to optimize medical treatment and to lessen the risk of aortic events, although data on this issue are limited [21-23] (algorithm 1). Because dissection of the aorta may occur at smaller aortic dimensions in Turner syndrome patients and at an earlier age, it is reasonable to begin prophylactic antihypertensive therapy earlier than for other patient groups [13]. (See "Management of Turner syndrome in children and adolescents", section on 'Hypertension'.)

If aortic dilatation is identified on imaging, management may include beta blockers, exercise restriction, and aggressive blood pressure control, similar to management of this issue in patients with Marfan syndrome. Any complaint of chest pain should be evaluated urgently by a specialist because it may be a symptom of early dissection. (See "Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders" and "Clinical features and diagnosis of acute aortic dissection".)

Elective surgical repair may be an option for some patients, particularly if aortic dilation is rapidly expanding (ie, an increase of more than 0.5 cm in one year). The techniques used and perioperative care are similar to those used for other patients with aortic dilatation and dissection. (See "Management of Turner syndrome in children and adolescents", section on 'Hypertension' and "Management of Marfan syndrome and related disorders" and "Management of thoracic aortic aneurysm in adults".)

Hypertension — Hypertension is reported in 30 to 50 percent of adult Turner syndrome patients and is associated with an increased risk of stroke and aortic dissection (table 3) [13]. (See "Turner syndrome: Clinical manifestations and diagnosis".)

Blood pressure should therefore be monitored at every clinical visit; ideally, blood pressure should be measured manually because automated blood pressure monitoring may result in falsely high readings. Twenty-four-hour Holter monitoring may be helpful to confirm hypertension in certain patients who are particularly anxious in the clinician's office (table 1).

If hypertension develops, treatment should be initiated, including lifestyle modification and weight loss if indicated. Patients should also be evaluated for causes of hypertension such as kidney disease, obstructive uropathy, and previously undetected coarctation of the aorta.

Most experts suggest starting therapy for blood pressures persistently in the hypertensive range and targeting a low-normal blood pressure [13,21]. Hypertension is defined as blood pressure >130/80 mmHg for adults and children >13 years [24]. Initial therapy usually consists of beta blockers, unless otherwise contraindicated, due to their favorable effect on aortic dilatation in Marfan syndrome, although evidence in Turner syndrome is limited [9,10]. Angiotensin-converting enzyme (ACE) inhibitors are a reasonable alternative. (See "Management of Marfan syndrome and related disorders", section on 'Drug therapy'.)

Other management issues

●Patients found to have coarctation of the aorta should almost always undergo surgical correction. (See "Clinical manifestations and diagnosis of coarctation of the aorta" and "Management of coarctation of the aorta", section on 'Choice of intervention'.)

A percutaneous stenting approach of aortic coarctation in Turner syndrome patients can be effective, but it is associated with serious morbidity and mortality [25].

●For those with a conduction abnormality shown on electrocardiogram (prolonged QTc interval), drugs that prolong QTc interval should be avoided (eg, antifungal agents, such as fluconazole; metronidazole; fluoroquinolones, such as ciprofloxacin; macrolide antibiotics, such as azithromycin; certain human immunodeficiency virus (HIV) antiviral agents; and others). (See "Acquired long QT syndrome: Clinical manifestations, diagnosis, and management".)

●Antimicrobial prophylaxis is not required for most Turner syndrome patients with valvular heart disease, including those with bicuspid aortic valve. This is based on the 2007 American Heart Association (AHA) guidelines on the prevention of bacterial endocarditis, which recommend that only patients with the highest risk for the development of endocarditis receive antimicrobial prophylaxis [26]. (See "Prevention of endocarditis: Antibiotic prophylaxis and other measures".)

Mortality — Overall mortality rates in patients with Turner syndrome are increased approximately threefold when compared with the general population. Cardiovascular disease accounts for approximately 40 percent of deaths, but the excess risk occurs for most major causes of death [27,28]. The increased mortality is seen at all ages, but it is highest in older adulthood (figure 1) [28]. Estrogen deficiency is also thought to play a role. The excess mortality of Turner syndrome is discussed in detail separately. (See 'Hormone therapy' below.)

Reproductive health

Hormone therapy

Estradiol — Unless there is an absolute contraindication, such as breast cancer, females with Turner syndrome should receive estradiol therapy to prevent bone loss and reduce the risk of osteoporosis, cardiovascular disease, urogenital atrophy and to maintain sexual health and quality of life (table 3 and table 4). The clinical consequences of long-term estrogen deficiency and the practical aspects of estrogen therapy in females with primary ovarian insufficiency (POI) are reviewed in detail separately. (See "Clinical manifestations and diagnosis of primary ovarian insufficiency (premature ovarian failure)", section on 'Bone loss and osteoporosis' and "Management of primary ovarian insufficiency (premature ovarian failure)", section on 'Importance of estrogen therapy'.)

Estradiol therapy may also be important to reduce the increased mortality risk seen in females with Turner syndrome. Although most of the excess mortality is due to cardiovascular complications, estradiol deficiency throughout life may play a role in the noncongenital cardiovascular complications. (See 'Mortality' above.)

Estradiol regimens for adult females with Turner syndrome are the same as for other females with POI and are reviewed separately. We prefer transdermal estradiol patches at a typical dose of 100 mcg given once or twice weekly depending upon the formulation.

Progesterone — A progestogen is required to prevent exogenous estrogen-associated endometrial hyperplasia and carcinoma. Similar to our approach for females with premature ovarian insufficiency or natural menopause, we suggest micronized progesterone. After pubertal induction, a cyclic regimen is given (oral micronized progesterone 200 mg days 1 to 12 of calendar month). A continuous progesterone regimen (100 mg nightly) can also be used. The latter regimen results in amenorrhea and is typically reserved for adult females. (See "Management of primary ovarian insufficiency (premature ovarian failure)", section on 'Importance of estrogen therapy' and "Management of primary ovarian insufficiency (premature ovarian failure)", section on 'Choice of progestin'.)

While some females with early POI and residual ovarian function sometimes use combined oral contraceptives (COCs) for contraception, most females with Turner syndrome have complete ovarian failure and do not require contraception. In addition, limited data suggest females with Turner syndrome are at increased risk for venous thromboembolism [29], and therefore, COCs should be avoided if possible. (See "Combined estrogen-progestin contraception: Side effects and health concerns", section on 'Cardiovascular effects'.)

Duration — In young females with POI, including those with Turner syndrome, we suggest continuing hormone therapy until age 50 or 51 years, the average age of menopause. (See "Management of primary ovarian insufficiency (premature ovarian failure)", section on 'Duration of therapy'.)

Unfortunately, many females do not receive the appropriate duration of hormone therapy. In a report of 50 adult females with Turner syndrome with a mean age of 40 years, only 34 (68 percent) were still taking estrogen. Among the 16 females not taking estrogen, 11 had stopped because they were unaware of the health benefits of estrogen and five were advised against its use by their clinicians [30]. Six of 16 females in the non-estrogen group had osteoporosis (three with vertebral compression fractures), compared with 0 of 34 in the estrogen group.

In a second study of 78 patients with Turner syndrome referred to an adult specialty clinic (median age 28.5 years), 37 percent had either stopped estrogen on their own or had been advised to stop by their clinicians [9]. One-third of the females had already experienced osteoporosis-related fractures.

Safety — Many females express concerns about the potential risks of cardiovascular complications and breast cancer with long-term estrogen therapy because of reports from the Women's Health Initiative (WHI), a study of menopausal hormone therapy (MHT) in older postmenopausal females (average age 63 years) (see "Menopausal hormone therapy: Benefits and risks"). However, the results of the WHI are not clinically relevant for young females with POI due to Turner syndrome or other causes of POI, in whom the benefits of MHT outweigh the risks.

Data from females with Turner syndrome further include the following:

●In a report of 62 patients with Turner syndrome who had been on hormone therapy for 20 to 40 years, no cases of breast cancer were identified [31].

●In a national cohort study, the use of hormone therapy in patients with TS was associated with lower morbidity (hypertension, stroke) compared with those not taking hormone therapy [32].

●There had been concern that treatment with estrogen might worsen hepatic disease in patients with elevated liver enzymes. However, in a study of 80 females (ages 17 to 49 years) with Turner syndrome, 44 percent of whom had elevated liver enzymes, hormone therapy (estrogen plus progestin) was associated with improvement in liver enzymes [33].

Management of fertility and pregnancy — Most individuals with TS experience infertility. Spontaneous pregnancy occurs in approximately 10 percent, almost all of whom have mosaic karyotypes. However, spontaneous pregnancy can occur, including in patients with 45,X karyotype. Patients unable to use their own oocytes may still carry a pregnancy achieved through use of a donor oocyte. In all patients with TS, pregnancy is associated with an increased risk of aortic dilatation, which is an important consideration for patients weighing multiple options for family building [34,35].

For fertility preservation, oocyte cryopreservation is an option. This is reviewed in detail separately. (See "Management of Turner syndrome in children and adolescents", section on 'Fertility preservation'.)

Preconception counseling and evaluation — Because of the potential risk of aortic dissection, females with Turner syndrome must undergo a complete medical evaluation before attempting pregnancy, with particular attention paid to cardiovascular and kidney function [13,36]. A consensus meeting that included expert input from cardiologists, medical and reproductive endocrinologists, and maternal-fetal medicine experts published updated clinical practice guidelines in 2024 [7,13].

Recommendations related to pregnancy include:

●Females with Turner syndrome should undergo cardiac screening and appropriate counselling by a maternal–fetal medicine specialists and cardiologists with expertise in managing females with TS prior to planning a pregnancy, especially if oocyte or embryo donation is considered.

●Imaging of the thoracic aorta and heart with transthoracic echocardiography (TTE) and cardiac MRI must be performed within two years before planned pregnancy or assisted reproductive technologies (ART).

●ART or spontaneous conception should be avoided in females with an ascending ASI of >2.5 cm/m² or an ascending ASI 2 to 2.5 cm/m² with associated risk factors for aorta dilatation, which include bicuspid aortic valve, elongation of the transverse aorta, coarctation of the aorta, and hypertension.

●Additional recommendations regarding the risks and precautions for pregnancy are found in consensus guidelines [7].

Spontaneous pregnancies — As noted, most females with Turner syndrome are infertile because of ovarian follicular depletion, but occasional spontaneous pregnancies occur. In one cohort of 480 females with Turner syndrome, 27 females (5.6 percent) had a total of 52 spontaneous pregnancies [37-40]. Predictors of pregnancy included spontaneous menarche and mosaic karyotype. Of the 52 pregnancies, there were 16 miscarriages (30.8 percent), one intrauterine fetal death related to severe growth restriction, five pregnancy terminations, and 30 live births (in 18 females ). These pregnancies are associated with a higher prevalence of hypertensive disorders of pregnancy, including preeclampsia and eclampsia.

IVF with cryopreserved oocytes — Some postpubertal adolescents or females with Turner syndrome and mosaic karyotypes retain sufficient ovarian function to produce oocytes with ovarian stimulation followed by oocyte retrieval and cryopreservation for later in vitro fertilization (IVF). In a study of 35 cycles of IVF in 22 females with mosaic Turner syndrome using autologous oocytes, the live birth rate was only 5.7 percent [41]. (See "Management of Turner syndrome in children and adolescents", section on 'Oocyte cryopreservation'.)

IVF with donor oocytes — In vitro fertilization (IVF) with donor oocytes results in considerably better pregnancy rates than IVF with autologous oocytes [13,35,42]. However, as noted, there are significant cardiac risks associated with pregnancy in all females with Turner syndrome. Therefore, this approach should only be considered after careful counseling and a thorough evaluation by a multidisciplinary team that includes maternal-fetal medicine specialists, reproductive endocrinologists, and cardiologists with experience in managing patients with Turner syndrome [13,34,43]. (See 'Preconception counseling and evaluation' above.)

Single embryo transfer is mandatory in these patients, given the increased medical risks associated with multiple gestations. The rate of cesarean section is also quite high in these pregnancies.

The management of coarctation prior to and during pregnancy in all females is discussed separately. (See "Management of coarctation of the aorta", section on 'Pregnancy'.)

Outcomes — In a systematic review of 11 studies including 179 patients with Turner syndrome undergoing IVF with donor oocytes, the following results were seen [13]:

●The pooled clinical pregnancy rate per embryo transfer was 28 percent (similar to females without Turner syndrome).

●The incidence of hypertensive disorders of pregnancy was between 35 and 67 percent in singleton pregnancies (versus 13 to 39 percent in females without Turner syndrome) and as high as 100 percent in multiple pregnancies.

●The reported incidence of preeclampsia ranged from 18 to 44 percent and 75 to 100 percent in singleton and multiple pregnancies, respectively.

●The cesarean delivery rate for singleton pregnancies was 82 to 100 percent (versus 31 to 85 percent for females without Turner syndrome). The increased frequency is related to maternal cardiac disease as well as cephalopelvic disproportion in females with short stature.

In a cohort study published after the pooled analysis [35], 106 females with Turner syndrome underwent IVF with oocyte donation, resulting in 122 deliveries. Outcomes included multiple gestations in 7.4 percent and hypertensive disorder of pregnancy in 35 percent, including preeclampsia in 20.5 percent. Ten females had a known cardiac defect before pregnancy, although only 49 percent had a prepregnancy cardiac evaluation within two years before pregnancy and only 29 percent had an echocardiogram or cardiac MRI during pregnancy. Potentially life-threatening complications occurred in four patients (3.3 percent). In spite of suboptimal preconception evaluation and screening, no maternal deaths were reported. The rate of multiple gestations in this study was lower than what is typically reported in oocyte donation studies of females without Turner syndrome; single embryo transfer is mandatory with Turner syndrome, but not with other patients.

Medical management during pregnancy — Medical management of pregnant females with Turner syndrome focuses on blood pressure control. Recommendations for antihypertensives do not differ from those for pregnant females who do not have Turner syndrome. (See "Treatment of hypertension in pregnant and postpartum patients".)

Because of the high risk of preeclampsia, females should receive 75 mg aspirin daily from 12 weeks of gestation until delivery. In addition, ultrasound screening for intrauterine growth restriction (IUGR) is typically done, given the increased risk in this population. In one report of 93 females with Turner syndrome who conceived with donor oocytes, the frequency of IUGR was 27.5 percent (26 of 93 pregnancies) [44,45]. (See "Preeclampsia: Prevention", section on 'Low-dose aspirin' and "Fetal growth restriction: Screening and diagnosis".)

Delivery — A delivery plan should be made by a multidisciplinary team consisting of at least an obstetrician/maternal-fetal medicine specialist, cardiologist, and anesthesiologist, all with expertise in pregnancy in the context of maternal heart disease and/or aortopathy. Clinical practice guidelines suggest that females with an ascending ASI >2.5 cm/m² undergo cesarean delivery [13]. Vaginal delivery is the preferred mode of delivery in other females, with cesarean delivery for standard obstetric indications.

Surveillance for comorbidities — Females with Turner syndrome should be seen on a yearly basis for physical examination and biochemical testing for thyroid disease, abnormal weight gain and obesity, glucose intolerance and diabetes mellitus, dyslipidemia, and liver abnormalities [7,14]. In addition, screening for hearing loss and cardiovascular anomalies should be done at regular intervals (algorithm 1 and table 1) [13].

Routine laboratory monitoring is recommended, as outlined in the table (table 1):

Diabetes mellitus — Fasting plasma glucose, glycated hemoglobin (A1C), and lipid panel annually to monitor for metabolic syndrome and diabetes mellitus. Guidance on nutrition and physical activity should be provided to all patients and particularly to those with evidence of metabolic syndrome (table 1) [46,47]. (See "Turner syndrome: Clinical manifestations and diagnosis", section on 'Comorbidities'.)

Patents should also be weighed every year. Weight management is an essential health intervention as many comorbidities are obesity related.

Liver disease — Liver aminotransferases (alanine aminotransferase [ALT], aspartate aminotransferase [AST], and gamma glutamyl transpeptidase [GGTP]) should be measured annually (table 1). (See "Turner syndrome: Clinical manifestations and diagnosis", section on 'Comorbidities'.)

In most patients, the aminotransferase elevations remain mild. Referral to a liver disease specialist should be considered for those patients with rising aminotransferase concentrations. If significant elevations are confirmed, liver ultrasonography may be performed to screen for steatosis, nodules, or portal hypertension and to assess liver stiffness.

Some studies suggest that estrogen therapy is beneficial for females with elevated aminotransferases [48].

Autoimmune hypothyroidism — Thyroid function (thyroid-stimulating hormone [TSH] and free thyroxine [T4]) annually (table 1). (See "Turner syndrome: Clinical manifestations and diagnosis", section on 'Comorbidities'.)

Celiac disease — Clinical practice guidelines suggest screening by measuring tissue transglutaminase immunoglobulin (Ig) A antibodies (tTG-IgA, usually combined with total IgA), beginning in early childhood (around two years of age) and repeating every two years throughout childhood (table 1) [7,13,19]. During early adulthood, screening should be repeated if symptoms suggestive of celiac disease arise. The risk of celiac disease is modestly increased in Turner syndrome, with approximately 4 to 6 percent of patients affected. (See "Turner syndrome: Clinical manifestations and diagnosis".)

Bone health — Bone mineral density (BMD) should be evaluated using dual-energy x-ray absorptiometry (DXA) at the first visit with the adult provider. In addition, serum 25-hydroxyvitamin D should be measured every three to five years in adult patients (table 1) [13]. Maintaining recommended serum levels of 25-hydroxyvitamin D is important because girls and females with Turner syndrome have an increased risk of fracture even with a normal BMD [49]. (See "Vitamin D deficiency in adults: Definition, clinical manifestations, and treatment", section on 'Criteria to define optimal 25(OH)D'.)

Females with Turner syndrome have an increased risk for osteoporosis and fractures. Contributors include inadequate estrogen therapy and a possible estrogen-independent defect in cortical bone in these patients. Important preventive measures include optimal estrogen replacement as well as calcium, vitamin D, and weightbearing exercise. Females who meet these goals typically have normal BMD and are able to maintain this long term [49,50]. (See "Turner syndrome: Clinical manifestations and diagnosis".)

Conventional BMD measurements (eg, DXA) can underestimate the true bone density of individuals with short stature [51]. However, we can use DXA scans to monitor bone density in response to estrogen therapy. If BMD is abnormal, further evaluation and treatment are the same as for other patients with low bone density or osteoporosis. If BMD is low when the patient is first evaluated, we suggest performing a DXA every five years once adult estradiol replacement therapy has been instituted. If BMD is normal, additional follow-up is done when the patient stops estradiol replacement (around 50 years of age). (See "Evaluation and treatment of premenopausal osteoporosis".)

Audiology testing — Regular evaluation of hearing (every three to five years) is essential for females with Turner syndrome (table 1) [13,19,47]. Sensorineural hearing impairment, predominantly at a frequency of 1000 to 2000 Hz (sensorineural dip), has been noted in more than 50 percent of adult Turner syndrome patients. This sensorineural hearing loss may be superimposed on conductive loss due to frequent otitis media in childhood and may also be complicated by the development of cholesteatoma in some patients. The technique of choice for the surgical treatment of cholesteatoma is canal wall down mastoidectomy [52]. Early detection of hearing impairment and treatment with hearing aids is important to minimize the adverse effects on learning and social function [53]. (See "Turner syndrome: Clinical manifestations and diagnosis", section on 'Hearing and ear abnormalities'.)

Neuropsychiatric — Neuropsychology and allied behavioral health services should be integrated into the care for girls and females with Turner syndrome [13]. Most individuals with Turner syndrome have normal intelligence, but girls with a ring X chromosome have a higher risk for intellectual disabilities [54]. Some patients may have attention deficit disorder and difficulties with visual-spatial organization (including problems with mathematics and reverse parallel-parking), social cognition, and nonverbal problem-solving tasks. Cognitive behavioral therapy may be helpful for those with executive function issues (table 1) [13]. (See "Turner syndrome: Clinical manifestations and diagnosis", section on 'Neuropsychological concerns'.)

Skin — A yearly skin examination should be done to assess for keloid and changes in pigmented nevi (table 1). (See "Turner syndrome: Clinical manifestations and diagnosis".)

RESOURCES AND INFORMATION — 

Information and support for patients and their families can be obtained from:

Turner Syndrome Society of the United States

Tel: 1-800-365-9944

Turner Syndrome Foundation

Tel: 1-800-594-4585

Turner Syndrome Global Alliance
Tel: 1- 919-539-8064

Turner Syndrome Society of Canada

Tel: 1-800-465-6744

Turner Syndrome Society of UK

Tel: +44-0141-952-8006

SOCIETY GUIDELINE LINKS — 

Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Turner syndrome".)

INFORMATION FOR PATIENTS — 

UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5^th to 6^th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10^th to 12^th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.

Here are the patient education articles that are relevant to this topic. We encourage you to print or e-mail these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient info" and the keyword(s) of interest.)

●Basics topic (see "Patient education: Turner syndrome (The Basics)")

SUMMARY AND RECOMMENDATIONS

●Turner syndrome – Turner syndrome is one of the most common chromosomal anomalies in humans and represents an important cause of short stature and primary ovarian insufficiency (POI) in females. It is caused by loss of part or all of an X chromosome. (See 'Introduction' above.)

●Cardiovascular disease – Cardiovascular disease presents the most serious health problem for females with Turner syndrome and substantially contributes to the increased mortality rates for affected individuals. The morbidity and mortality are due to increased risks for cardiovascular malformations, compounded by kidney abnormalities and hypertension, leading to increased risk for aortic dilatation and dissection. (See 'Cardiovascular health' above.)

Ideally, all patients with Turner syndrome (especially those with identified cardiac anomalies) should have ongoing care with a cardiologist, preferably one who has expertise in congenital heart disease.

Imaging with transthoracic echocardiography and cardiac magnetic resonance imaging (MRI) is performed periodically. The frequency of imaging studies depends upon the presence or absence of existing cardiovascular abnormalities, such as coarctation of the aorta, bicuspid aortic valve, or hypertension, and the aortic size index (ASI) (algorithm 1). (See 'Monitoring/surveillance' above.)

●Premature ovarian insufficiency (POI) – For adult females with Turner syndrome who have POI, unless there is an absolute contraindication, we suggest estradiol-progestin therapy to prevent bone loss and reduce the risk of osteoporosis, cardiovascular disease, urogenital atrophy, and to maintain sexual health and quality of life (Grade 2B). Patients should continue therapy until the average age of menopause (ie, approximately 50 or 51 years). (See 'Hormone therapy' above.)

●Fertility – Most females with Turner syndrome are infertile but can achieve fertility with in vitro fertilization (IVF) with donor oocytes. However, there are serious cardiovascular risks during and after pregnancy, the most important of which is the risk of aortic dissection. Cardiovascular evaluation is essential before considering pregnancy (algorithm 1). Fertility preservation with oocyte cryopreservation is an option for some patients. (See 'Management of fertility and pregnancy' above and "Management of Turner syndrome in children and adolescents", section on 'Fertility preservation'.)

●Monitoring – In addition to monitoring for cardiovascular complications, patients with Turner syndrome should have ongoing monitoring for other important health issues (table 1). (See 'Surveillance for comorbidities' above.)