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Hello. I was wondering how likely it is for a male Schmidt's syndrome patient to pass on the disease to his children. Thank you.
Risk is there: The genetic risk is there but it doesn't mean all of them will get it. It just means they have a higher chance than the general population to develop the disease. The best thing is to go see the endocrinologist or the geneticist to determine their individual risks. There are test that can be done to determine if they have the antibody and the HLA type ...Read moreSee 1 more doctor answer
I have type 2 autoimmune polyglandular syndrome schmidt's syndrome and I need to find a doctor who knows how to treat this. Not just any other endo?
I have hypothyroidism with pos tpo, low-t, adrenal insufficiency. Have gotten worse on Synthroid (thyroxine) and trt. Does negative ANA rule out schmidt syndrome?
Not useful: ANA / anti-nuclear antibody isn't a marker for schmidt's. In fact, with your history, the question's perhaps moot. It's critical that you monitor your adrenal function -- especially since if you should for some reason get your thyroid replacement adjusted upward, you cover your possible underlying coexisting adrenal insufficiency. Not to do so can be catastrophic. You need a good endocrinologist. ...Read more
Genetic blindness: This is an autosomal recessive disease (i.e., the patient inherits one defective gene from each parent), with progressive loss of vision and sometimes other neurologic problems. Carriers (one copy of the gene) may have some visual problems. There is no specific treatment, and my hope is that if you or someone you know is affected, good supportive care will be available. ...Read more
Sharpe Syndrome : Its another name for mixed connective tissue disease, an autoimmune disease with features of systemic lupus erythematosus, scleroderma, and polymyositis, sometime referred to as undifferentiated connective tissue disease. Individuals who have this condition are best served by a rheumatologist (an internist with subspecialty training in rheuamtology). ...Read more
Tumor family: This is a fairly common trait passed parent-to-child, 50% chance, in which certain tumors are substantially more common and there may be curious bumps especially on the skin. It is not curable but if good surveillance for tumors is maintained, it's manageable. Several genetic loci are known especially pten, and genetic counseling is available. ...Read more