Treatment recommendations for women with Turner syndrome and coronary artery disease are as in the general population, but as Turners increases the risk of type 2 diabetes, women with insulin resistance must weigh up the benefits of prophylactic or early statin treatment with the risk of diabetes. Internal medicine
Turner syndrome is associated with a broad variety of health considerations, such as liver and kidney issues, obesity, diabetes, and hypertension. Liver dysfunction is common in women with Turner syndrome, with 50%–80% having elevated liver enzymes. Non-alcoholic fatty liver disease is increased in prevalence in Turner syndrome, likely related in part to both conditions associations with obesity. Hepatic vascular diseases are also seen in the syndrome as an aspect of Turner syndromes broader vascular and cardiac impacts. Primary biliary cholangitis is more common in 45,X0 than 46,XX women. An unclear association exists between estrogen replacement therapy and liver dysfunction in Turner syndrome; some studies imply estrogen therapy worsens such conditions, while others imply improvement. Kidney issues, such as horseshoe kidney, are sometimes observed in Turner syndrome. Horseshoe kidney, where the kidneys are fused together in a U-shape, occurs in around 10% of Turners cases compared to less than 0.5% of the general population. A missing kidney is observed in as many as 5% of individuals with Turner syndrome, compared to around 0.1% of the population. A duplicated ureter, where two ureters drain a single kidney, occurs in as much as 20%–30% of the Turner syndrome population.
People with 17q12 microdeletions who have normal fertility have a 50% chance of passing the deletion down to their offspring. Environmental factors have not been implicated in the syndrome. Diagnosis
Like other chromosomal microdeletions, 17q12 microdeletion syndrome is diagnosed via fluorescence in situ hybridization. Traditional karyotyping, used to diagnose major chromosomal disorders such as aneuploidy, is rarely sensitive enough to detect microdeletions. Treatment
As the underlying 17q12 microdeletion is an innate genetic disorder, it cannot by itself be treated. Rather, treatment is symptomatic and supportive. The high prevalence of kidney disease indicates routine monitoring of renal function, particularly in people taking potentially nephrotoxic medications such as lithium. The comorbities involved in 17q12 microdeletion syndrome require caution in medical treatment; for instance, the increased risk of diabetes requires strict monitoring for post-transplantation diabetes mellitus in kidney transplant patients, as does the risk of weight gain and diabetes from neuroleptic drugs in those with a mental health diagnosis. Epidemiology
The prevalence of 17q12 microdeletion syndrome is unknown, and it is likely to be underdiagnosed. 17q12 microdeletions are estimated to occur in approximately 1 in 600 people on the autism spectrum and 1 in 1,600 with schizophrenia, but are far rarer in the general population. General prevalence is estimated to be between 1 in 14,000 and 1 in 62,500.In addition to the increased prevalence in autism and schizophrenia, some other clinical populations have increased prevalence of 17q12 microdeletion syndrome. The condition occurs in approximately 2% of those with congenital kidney abnormalities and 3-6% of women with Müllerian agenesis.