Clinical signs of this disorder include moderate growth delay, and goiter (swelling and enlargement of the thyroid gland). Dilated cardiomyopathy was observed in the two family members affected with this condition that were described in the case study and mutation-defining publication.

For many forms of congenital hypothyroidism, thyroid hormone replacement therapy has resulted in a successful outcome, particularly when started early in life. Due to the rarity of this form of congenital dyshormonogenic hypothyroidism in the Shih Tzu, it is unknown to what extent thyroid hormone replacement will be of benefit, however hormone replacement therapy may be a viable option for treatment.

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the CDH mutation can be safely bred with a clear dog with no copies of the CDH mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the CDH mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the CDH mutation could develop due to a different genetic or clinical cause.