Dyslipidaemia, Obesity, Type 2 Diabetes Mellitus

The risk of metabolic abnormalities is increased in Turner’s syndrome  women, with Type 2 diabetes mellitus being 2-4 times more common compared with the general population. Insulin resistance and hyperinsulinaemia are recognised and aggravated by obesity. Hypercholesterolaemia and hypertriglyceridaemia are common. HT appears to improve fat free mass and waist-hip ratio but not hyperlipidaemia in short term studies.

Evaluation includes annual fasting blood glucose and lipid profile. Oral glucose tolerance test may also be required. Management involves appropriate lifestyle advice including diet and exercise, cessation of smoking and weight loss in obese patients. Aim for BMI<25 and waist :hip ratio <0.8. Treatment for hyperlipidaemia should follow conventional guidelines; however, the effect of aggressive lipid lowering on the risk of IHD in Turner’s syndrome  women is unknown.

Hearing

Conductive and/ or sensorineural hearing loss is common in adult Turner’s syndrome  women and progresses with age; up to 61% Turner’s syndrome  women older than 35 years have significant hearing loss. Turner’s syndrome  women with mosaicism have a lower risk of ear problems. Regular audiological evaluation is essential with liaison with ENT service as required.

Hypothyroidism

Autoimmune thyroid disease is common in women with Turner’s syndrome , the incidence increasing with age. Thyroid disease is more frequent in women with the isochrome karyotype. Up to 50% have positive autoantibodies (antimicrosomal and antithyroglobulin) with 25-30 % developing hypothyroidism. The incidence of Graves’ disease is not increased although in one series 3% patients presented with hyperthyroidism (27% presenting with hypothyroidism).
Turner’s syndrome H should be checked yearly and if abnormal, FT3 and FT4 should be checked. Hypothyroidism should be treated appropriately.

Gastro-intestinal disease

Abnormal liver function tests (LFTs) are often noted (reports of 40-80% women with Turner’s syndrome ) but the cause and relation to chronic liver disease is unknown. Liver cirrhosis is reported to be 5 times more common in Turner’s syndrome  women but the risk for progression from abnormal LFTs to cirrhosis is unknown. LFTs should be monitored at least annually and referral to a hepatologist may be required.. Transdermal HT is preferred to oral where a women has abnormal LFTs.
The risk of Inflammatory bowel disease (IBD) is increased at least 2 fold in women with Turner’s syndrome , with Crohn’s disease being twice as common as ulcerative colitis. IBD is more commonly associated with the isochromosome Xq karyotype. IBD should be excluded in women presenting with diarrhoea and gastrointestinal bleeding (GITB).

There have also been some reports of an increased risk of GITB from intestinal telangiectasia presenting as iron deficiency anaemia.

Coeliac disease has been reported in 4-6% women with Turner’s syndrome . Endomysial and transglutaminase antibodies should be measured if coeliac disease is suspected clinically or in the setting of osteopaenia. If antibodies are present then anti-gliadin antibodies and serum IgA should be measured and referral to a gastroenterologist (even if asymptomatic) instituted.

Renal

The prevalence of structural renal abnormalities in Turner’s syndrome  women is reported as 25-43%. Pre-existing renal tract abnormalities may predispose to hypertension, infection or obstruction, increasing the risk of chronic renal impairment.

All women at diagnosis or if renal morphology unknown, should have a renal ultrasound. If structural renal abnormalities or hypertension are present monitoring of creatinine clearance, urinary microalbumin, serum electrolytes and MSU is appropriate. Referral to a renal physician is indicated where renal morphology is abnormal or in the presence of impaired renal function. Urinary tract infections should be treated promptly.

Osteopaenia/ osteoporosis

Women with Turner’s syndrome  are at an increased risk of osteoporotic fracture. Reduced bone mass is thought to be secondary to oestrogen deficiency; although, an intrinsic bone defect has also been postulated. HT improves bone mass but the effect on fracture risk is unknown in these women. The role of bisphosphonates  in the management of osteoporosis in Turner’s syndrome  women is unclear. Management should be directed at monitoring of bone mineral density (BMD) by DEXA scan ( at initial visit and then 2 yearly if reduced or 5 yearly if normal). Measure 25 hydroxy vitamin D levels and treat with vitamin D supplements if low. Therapy should include adequate calcium (1000 mg/ day) and Vitamin D intake (400 IU per day), weight bearing exercise and HT. Specialist referral is required for consideration of bisphosphonate therapy if fracture occurs or if significant decline in BMD while on adequate HT.

Ophthalmological

Ophthalmic problems are observed in approximately 2/3 of women with Turner’s syndrome ; strabismus being the most common. Red –green colour deficiency is seen in 5% Turner’s syndrome  individuals. Annual eye review is indicated.

Dental

Malocclusion may occur in childhood and continue to cause problems in adulthood. Regular dental review is necessary (6 monthly).

Orthopaedic

Structural bone defects contribute to the Turner’s syndrome  phenotype with scoliosis occurring in 10% of Turner’s syndrome  women. Referral to the appropriate specialist (orthopaedic surgeon/ rheumatologist) or physiotherapist may be required.
Lymhoedema
Lymhoedema contributes to the characteristic Turner’s syndrome  phenotype (eg webbed neck). It may recur following commencement of HT. Use of support stockings or diuretics may be helpful in controlling symptoms.

Skin

Turner’s syndrome  women are thought to have an increased risk of keloid scar formation which needs to be considered in regard to elective cosmetic procedures/ ear piercing. Multiple pigmented naevi are common but the risk of malignant transformation does not appear to be increased above that of the general population. The prevalence of immune dermatological disorders (eg. alopecia, vitiligo, psoriasis) is increased in Turner’s syndrome  women.

Content created June 04, 2007