Thyroid Problems in Down syndrome

Hypothyroidism (underactive) is the most common problem, both congenital and acquired.

Symptoms:- These may typically include:- tiredness, overweight, constipation, dry skin, lifeless hair and feeling cold, sparse hair and a rather hoarse voice. Symptoms usually develop slowly, and gradually become worse over months or years as the level of thyroxine (T4) in the body gradually reduces.

As the clinical features of Down syndrome can mask the signs and symptoms of hypothyroidism making clinical diagnosis unreliable, therefore a blood test is required in order to make an accurate diagnosis.

Hyperthyroidism (overactive) is found more frequently in people with Down syndrome than in the general population.

Symptoms:- the major clinical signs include weight loss (often accompanied by an increased appetite), anxiety, intolerance to heat, tiredness, hair loss, weakness, hyperactivity, irritability, apathy, depression, polyuria, and sweating. Additionally, patients may present with a variety of symptoms such as palpitations, shortness of breath (dyspnea), nausea, vomiting, and diarrhea. Long term untreated hyperthyroidism can lead to osteoporosis.

DOWN SYNDROME MEDICAL MANAGEMENT GUIDELINES

Suggested schedule of health checks taken from Guidelines

Growth Heart Thyroid Sight Hearing
Birth 6 wks Length/weight/head circumference - Plot on Down Syndrome Specific Growth Charts* Clinical Examination Echocardiogram 0-6 weeks or Clinical Examination ECG + Chest X-ray Birth and 6 wks Routine Guthrie test Eye Examination, check for congenital cataract and glaucoma. Neonatal screening where available
6-10 months Growth assessment as above at each routine visit* Visual behaviour, check for squint Full audiological review (Otoscopy, Impedance, Hearing thresholds)
12 months Growth assessment as above at each routine visit* Dental Advice Full Thyroid function tests or TSH (finger prick)** yearly when available Visual behaviour, check for squint
18-24 months Growth (height/weight) assessment as above* Dental Advice and Examination of teeth Full Thyroid function tests or TSH (finger prick)** yearly when available Ophthalmological examination including Orthoptic screening, refraction and fundal examination Full audiological review as above
3 - 3 ½ years Growth (height/weight) assessment as above* Dental Advice and Examination of teeth Full Thyroid function tests or TSH (finger prick)** yearly when available Full audiological review as above
4 - 4 ½ years Growth (height/weight) assessment as above* Dental Advice and Examination of teeth Full Thyroid function tests or TSH (finger prick)** yearly when available Ophthalmological examination as above Full audiological review as above

* Encourage a healthy lifestyle (healthy eating and regular exercise) at all times
** TSH (finger prick)- capillary whole blood thyroid stimulating hormone (tsh) sample - using one circle on National Newborn Screening Programme

From age 5years to 19 years

Paediatric Medical Review Annually

Cardiology Echo in early adult life to rule out mitral valve prolapse
Hearing 2 yearly audiological review as above
Vision 2 yearly Ophthalmological examination including refraction and fundal examination
Thyroid 2 yearly from 5 years (venous) or TSH (fingerprick)** annually, when appropriate structures, personnel and funding are in place

Professor Hilary MCV Hoey - Dr Joan Murphy PhD Paediatrics

Department of Paediatrics, University of Dublin, Trinity College, at the National Children's Hospital, AMNCH, Tallaght, Dublin 24

Updated 13th July 2006