Related Experiment Video
Updated: Jul 18, 2026
06:38
In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
Published on: March 7, 2025
Myxedema coma in a patient with Down's syndrome
The Journal of the Arkansas Medical Society
|November 23, 2006
Summary
Thyroid dysfunction is common in Down syndrome, with hypothyroidism being most frequent. This case highlights a patient with Down syndrome who developed myxedema coma, emphasizing the need for regular thyroid screening.
Area of Science:
- Endocrinology
- Genetics
- Internal Medicine
Background:
- Thyroid dysfunction is a frequent comorbidity in individuals with Down syndrome.
- Hypothyroidism is the most common form of thyroid dysfunction in this population.
- Untreated hypothyroidism can progress to life-threatening myxedema coma.
Observation:
- A case report of a patient with Down syndrome presenting with myxedema coma is described.
- The patient exhibited key diagnostic criteria including altered mental status, impaired thermoregulation, and a precipitating illness.
Findings:
- Diagnostic confirmation included elevated thyroid-stimulating hormone (TSH) and low triiodothyronine (T3) and thyroxine (T4) levels.
- The patient showed a rapid positive response to levothyroxine treatment, confirming the diagnosis of myxedema coma.
Implications:
- This case underscores the critical importance of vigilant monitoring for thyroid dysfunction in patients with Down syndrome.
- Regular thyroid screening is recommended for individuals with Down syndrome to prevent severe complications like myxedema coma.
- Early detection and management of hypothyroidism can significantly improve outcomes for this vulnerable population.
Related Concept Videos
01:24Graves Disease II: Pathophysiology
Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
01:28Graves' Disease I: Introduction
Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
01:21Hyperosmolar Hyperglycemic State
Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...
01:27Hyperthyroidism II: Pathophysiology
Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH receptors...
01:25Hyperthyroidism I: Introduction
Hyperthyroidism is a type of thyrotoxicosis characterized by the thyroid gland's overproduction of the thyroid hormones triiodothyronine (T3) and thyroxine (T4). This hormone excess increases the basal metabolic rate and enhances sensitivity to catecholamines.DiagnosisDiagnosis is based on clinical features and biochemical testing. It typically shows suppressed thyroid-stimulating hormone (TSH) levels below 0.4 mIU/L, with elevated free T3 and/or T4. Additional tests, including thyroid...
01:22Diabetic Ketoacidosis ll: Pathophysiology
Diabetic ketoacidosis (DKA) is a metabolic emergency characterized by hyperglycemia, ketonemia, and metabolic acidosis. It results from severe insulin deficiency and an excess of counterregulatory hormones, leading to uncontrolled lipolysis, ketogenesis, and widespread electrolyte and fluid disturbances.Pathophysiology The central event in DKA is a profound loss of insulin action. Without insulin, glucose uptake in insulin-dependent tissues is impaired, while hepatic glucose production...