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Preventing mental retardation:
A Look at Cases of Untreated Congenital Hypothyroidism

By Riva Kamat, MD – CoverMD Senior Contributing Editor


Congenital hypothyroidism is the leading cause of preventable mental retardation in the world. In this article, Dr. Kamat examines cases of untreated congenital hypothyroidism and highlights some important take home points for Clinical Practitioners. Failure to treat congenital hypothyroidism constitutes medical negligence.

Baby Janie

Immediately after bringing home her baby, Mrs. Smith began noticing signs of excessively sleepiness, decreased feeding and poor weight gain in Janie. She knew something was wrong but could not figure out exactly what caused her child to have issues. She went to see her family doctor seven times in the next eight weeks. He did x-rays and changed formulas but nothing was helping.
Mrs. Smith would notice that Janie would be sleeping twenty three hours per day and would not awaken to feed. Janie would not have bowel movements and glycerin suppositories did not help her. At two months age, her doctor finally looked through Janie’s chart and noted her thyroid levels were low. He asked that Janie get repeat thyroid labs and told mom that the results would be back in two or three days. He would refer her to an endocrinologist if the labs were abnormal.
That night Janie got worse and would not feed. Her mom went home and began researching hypothyroidism on the internet. She began calling endocrinologists herself, only to be told by the receptionist that there was a 2-3 month wait time to be seen. Finally she spoke directly to an endocrinologist who listened to her story and then advised her to immediately go to the nearest pediatric hospital. Little Janie had congenital hypothyroidism which had not been treated for eight weeks. When she arrived at the hospital her blood sugar was low and she was well below her height, weight and head circumference for her age. Her doctor’s office had been notified three times by certified letter from the Virginia newborn state screening program about her abnormal thyroid screen. The paperwork was filed away in Janie’s chart. Her doctor never appreciated the dire clinical significance of the lab results as it related to his patient.

Baby Samantha

In Illinois, little Samantha Lewis was born five years earlier and began exhibiting classic signs of congenital hypothyroidism. Her doctor did not make the connection between signs of congenital hypothyroidism and her failure to thrive. The hospital had lost the sample from the newborn screen and never retested the babies whose samples had been lost.
Both girls went on to have developmental delays. Janie is five years old and has slight delays in preschool. Samantha is eleven years old and was not so lucky. She has the cognitive abilities of a 3 year old child. Both girls will be on Levo-thyroxine (thyroid hormone) for the rest of their lives.
Samantha’s parents were recently awarded a 4.8 million dollar settlement after suing the hospital system and the Smith family went on to settle for an undisclosed amount with their family practice doctor.
Mr. Michael Corrigan with The Padberg and Corrigan Law Firm settled the case for the Lewis family. He states that changes have been made in the Illinois Newborn Screening Program. Due to this case, there is better tracking of the samples. There is also improved communication with the hospital, primary medical doctor and the state lab that does the newborn screening.

Take Home Points for the Clinical Practitioners:

1. Children are not little adults

While adults can go weeks without being treated for hypothyroidism, children with congenital hypothyroidism must be seen emergently by a pediatric endocrinologist. The American Academy of Pediatrics recommends beginning treatment with levo-thyroxine immediately while waiting for the follow up tests. Essential vital organ function depends on a working thyroid system.

2. Congenital hypothyroidism is the leading cause of preventable mental retardation in the world

In North America, five million newborns are tested through the newborn screening program. About 1,400 babies are identified with abnormal thyroid screens. Children must be treated within two to three weeks to prevent signs of significant developmental delay and mental retardation. Children treated after three months of age are likely to have mental retardation.

3. Communicate results of important lab results with your practitioners

Make sure your office staff had a fail-safe system to communicate results of important lab results with your practitioners. If the receptionist receives a certified letter from the newborn screening program in your state, make sure she knows exactly who to give the letter to, whether it is a nurse, nurse practitioner or a doctor. Make sure the people who are reviewing the labs know the significance of the results. Mr. Tom Williamson, of the Williamson Petty LC, Law Firm who settled the Smith case states that in his client’s case, there was a clerical malfeasance. He advises that all pediatricians and family practice doctors must have a proper fail safe system in place. Each doctor’s office needs to have a proper system in place to get the results to the right person. Mr. Williamson says,” Practitioners must have a clinical knowledge of the disease and understand that there are false positive and false negative results.”

4. Failure to treat congenital hypothyroidism constitutes medical negligence

For clinicians who fail to treat congenital hypothyroidism, this constitutes medical negligence. This will immediately put clinicians and hospital systems at risk for medical malpractice suits. These suits are avoidable with a good communication system in place.


In conclusion, children and the families of these children suffer when congenital hypothyroidism is not treated properly. Years of physical therapy, occupational therapy, early intervention from school and sleepless nights will follow families for years to come. This outcome is perfectly preventable and should be avoided at all costs.

For further information, please see the American Academy of Pediatrics statement recommended guidelines for congenital hypothyroidism:;91/6/1203.pdf

About the Author

 Dr. Riva Kamat - Senior Contributing Editors
Dr. Riva Kamat

Dr. Riva Kamat is a board certified pediatrician who practices pediatric hospital medicine. She is a pediatric inpatient hospitalist at Inova Fairfax Hospital for Children in Falls Church, Virginia. In addition, she consults and advises law firms on medical malpractice cases involving pediatric and adolescent medicine. A long standing member of the American Academy of Pediatrics, she is the past president of the Northern Virginia Pediatric Society. Working in inner city clinics in Pittsburgh and as an outpatient pediatrician at Kaiser Permanente has given her a wide range of clinical pediatrics.

Dr. Kamat is an Assistant Professor at the Georgetown School of Medicine and Clinical Instructor for the Virginia Commonwealth University School of Medicine. She enjoys teaching medical students and residents using medical photography.


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