Category: Thyroid

Monitor: 35


Thursday, Apr 25
11:00 AM – 11:30 AM

Objective : Down Syndrome is the most frequent chromosomal abnormality in live born infants. Autoimmune issues are seen in Down Syndrome more often than the general population. Hypothyroidism is more common than hyperthyroidism in this group. Graves' Disease is still more common in Down Syndrome than the general population. Life expectancy is shorter than the general population with figures ranging from 56 to 58 years. We are reporting an unusual case of late onset Graves' Disease in an older patient with Down Syndrome.

Methods : n/a

Results : A 56 year old female with Down Syndrome presented with weakness, vague weight loss, sweating and frequent near syncopal events over several months as described by her caregiver as the patient had minimal verbal abilities. On examination, patient had mild fine tremors, slight proptosis, diffuse smooth thyroid enlargement x 1.5, heart rate 115 and regular, as well as brisk deep tendon reflexes. TSH <0.05 (0.47-4.70), Free T3 16.60 (2.77-5.27), Free T4 5.32  (0.8-2.2), Thyroid Stimulating Immunoglobulin 550 (<140), Thyrotropin Binding Inhibiting Immunoglobulin 75.1 (<16.0), Thyroid peroxidase Antibody 39 (<9), Thyroglobulin Antibody 70 (<=1). Cosyntropin response was acceptable. Thyroid function tests from five years earlier were normal. Patient was started on methimazole 30 mg a day and a beta blocker with excellent response clinically and chemically over the next few weeks.

Discussion : This patient presented with hyperthyoidism but was probably not rapidly diagnosed or treated as she could not verbalize her symptoms. Pediatric screening for thyroid disorders should be done from the newborn period and then annually. However, in adults screening stratergy is not clearly defined.  In any case case, thyroid functions were not performed for several years in this patient thus losing a chance for early diagniosis and treatment. Once diagnosed, treatment response was predictable. In general, an "older" patient may present with a more "apathetic" version of hyperthyroidism initially before evolving into a full blown case such as this one.

Conclusion : Life expectancy in Down Syndrome has progressed over the years due to improved supportive care and treatment of concomitant illnesses. Hypothyroidism and hyperthyroidism are more common in Down Syndrome than the general population. These illnesses have to be kept in mind with the evolving life expectancy in Down Syndrome, especially in patients who cannot clearly express their symptoms verbally.


Richard W. Pinsker

Internal Medicine Residency Program Director
Jamaica Hospital Medical Center
East Williston, New York

Program Director Internal Medicine Residency, Associate Chairman Department of Medicine for Medical Education, Jamaica Hospital and Medical Center, New York. COL (R), USARNG, MC.

Jebun Nahar

Faculty Supervisor, Attending, Department of Medicine
Jamaica Hospital Medical Center, New York
Jamaica, New York

Attending, Faculty Supervisor-Department of Medicine ,Jamaica Hospital Medical Center, Clinical Associate Professor of Medicine Ross University of Medicine .

Md. Shajjad Hossain

PGY-2 Resident, Internal Medicine
Jamaica Hospital Medical Center
Jamaica, New York

PGY2 Internal Medicine Resident

Rayen-Ayoub Chakra

PGY-1 Internal Medicine Resident
Jamaica Hospital Medical Center
Jamaica, New York

PGY-1 Internal Medicine Resident