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Inherited Disorders and Birth Defects

Just weird findings



My son developed a multinodular goiter at 14 and has been followed every since. The progress has always been more and bigger. He is now 22 and the dr. is recommending total thyroidectomy because his trachea is pushed to left and air way is mishaped. They incidentally found a 7.6 x 8.2 cm cyst in the entire left upper lobe of his lung. Upon checking this is fine- probably cogenital and just needs to be followed- watched, no scuba diving, etc. He developed epilepsy at 18- like his father and sisters. He had an extra tooth in roof of his mouth as youngster. He seems to have remmenant of an extra nipple. He is in college, and a good child. My question is why all the odd, findings and how they are not related. It just is a little worrisome. Do you think it could all somehow be related?Any ideas? He also has a varacocele.


This question has been forwarded by Children's Health:

It is not possible to say whether your son's findings of a goiter, varicocele, lung cyst, extra tooth and nipple are related, however, it would be appropriate for him to discuss this with his doctor. Goiters can be the only thing a person has, but they can be associated with other problems as well. I would recommend you speak to your son about talking to his doctor. He might also ask about talking to a geneticist as they often are able to put together findings that seem to be unrelated, but are not. He can locate a genetics center at the National Society of Genetic Counselors' Resource Center website below.

Related Resources:

National Society of Genetic Counselors Resource Center

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Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University