Doctor insights on:
Peutz Jegher Syndrome
My sis has high level of prolactin controlled by Dostinex, (cabergoline)dose that mean she has pituitary gland tumor? is that related to her Peutz-Jeghers syndrome?
Carney complex: Peutz-Jaeghers (P-J) syndrome is not classically associated with pituitary tumors; there is a syndrome called Carney complex that shares features / is similar to P-J syndrome and without genetic testing, they could be confused. Carney complex is associated with pituitary tumors. 80-95% of patients with P-J syndrome have mutation in STK11 (LKB1) . ...Read more
My sis 24old has peutz-jeghers syndrome, she has to do pep-test but she is virgin,is there other way to check the cervix? blood or urine test? or MRI?
Pap options: Your sister is at VERY low risk for cervical disease, but PJ syndrome can have other neoplastic manifestations in the ovaries and bowel, so if the intent is to screen for those, then US, colonoscopy and other approaches are available. But pelvic exam is the low cost way to screen for ovarian enlargement. ...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