ENDOCRINE ISSUES IN

CHILDREN WITH DOWNS

SYNDROME
PEDIATRIC ENDOCRINOLOGY
ASSOCIATES, LONG BEACH, CA

THYROID DISORDERS
The thyroid gland:
*Located in the neck in front of
the trachea (windpipe) and just
below the larynx (voicebox)
*Produces thyroid hormone
which regulates body metabolism,
and influences physical and mental
development

Thyroid disorders:
*hypothyroidism: incidence - up to 5% 1st 5 yo; up to 20% by

adolescence
*hyperthyroidism -

Hypothyroidism: Underactive thyroid gland

Symptoms:
More difficult to diagnose

hypothyroidism in Downs

Chronic tiredness

Weight gain
Growth deceleration
Feel cold
Dry skin
Constipation
Goiter

Hyperthyroidism: Overactive Thyroid Gland

Symptoms:

Prominent Eyes
Goiter
Jittery/Hyperactivity
Sensitivity to heat
Weight Loss

Rapid heart beat

Excessive sweatiness

Hyperthyroidism Complications:
Thyroid Storm
Life threatening
Caused by infection, stress, untreated hyperthyroidism

Symptoms:
High grade fever
CNS: agitation, delirium/psychosis, seizures, coma
GI: vomiting. Jaundice
Cardiovascular: tachycardia, congestive heart
failure, atrial fibrillation
Can be treated if diagnosed in a timely manner

Etiology
Heterogeneous but mostly autoimmune
Thyroid antibodies are found in ~30% of people with

Downs syndrome. More for hypothyroidism.

Hashimotos thyroiditis; Graves disease

Antibodies detected as early as age 2 years.

The presence of antibodies does not necessarily imply

thyroid dysfunction but should be taken as an indication

to check thyroid levels frequently.

The absence of antibodies does not preclude

hypothyroidism from other causes.

Treatment
Hypothyroidism:
Thyroid hormone supplementation

Hyperthyroidism:
Medications that prevent the production and

release thyroid hormone: Methimazole

Radioactive iodine ablation
Surgical resection

Medical Course
Hypothyroidism: less than

CALL TO ACTION
Parents:
Monitor patients for

signs of
hypothyroidism/
hyperthyroidism

Primary Care

Physicians:

Screening for thyroid

labs: free T4, TSH

Report to patients

primary care
physician

Newborn: NS, 6 and 12 mos.

Annually after age 1 yo

Labs are the gold

standard for
diagnosis

Listen to parents

Obesity/Diabetes mellitus

Higher incidence of obesity in Down

syndrome patients
Possible causes include:

less activity;
Resistance to hormone ghrelin which signals satiety

Conditions Associated with Obesity

Diabetes Mellitus type 2 up to 20x higher

prevalence vs. general population. 1:50-1:100

High cholesterol and triglycerides
Non alcoholic fatty liver disease
Obstructive sleep apnea
Hypertension

Diabetes Mellitus
DM is a condition where the body does not

produce enough insulin to keep the blood

sugar from getting higher than normal.

>125 mg/dL fasting

>200 mg/dL random

Two types: type 1- low insulin production;

type 2 body resistant to insulin

Treatment:

type 1: insulin;
type 2: weight management- diet; exercise; oral
medications; insulin

Diabetes mellitus
Symptoms of Diabetes:
Increased thirst

Increased urination
Constant hunger
Blurred vision
Feeling very tired
Weight loss in type 1 DM

Recommendations to PCP
Measure weight, height and calculate BMI at

least yearly, more often during the first year

of life.
Provide anticipatory guidance on diet and
exercise.
Dietary recommendations

Portion control
Avoid sugary foods

Short stature/Growth hormone therapy

Children with Down

syndrome are on the

average in the 2%ile
for height
Conditions such as

congenital heart
disease, celiac
disease further
contribute to short
stature

WHAT DO GROWTH HORMONES DO FOR

kids WITH DOWN SYNDROME?
Growth hormones appear to increase the eventual

height of kids with Down Syndrome.

Growth hormones DO NOT increase the head
circumference of those with Down Syndrome which was once thought to be the case.
Growth hormones DO NOT increase cognitive abilities
in those with Down Syndrome.
Growth hormones DO NOT improve gross motor
development of kids with Down Syndrome.
If growth hormone treatment is stopped before full
growth has occurred, growth rate declines.

Growth Hormone Tx in DS
The Downs Syndrome Medical Interest

Group recommends against the routine use

of growth hormone injections.
DS kids have a high risk of developing

leukemia and it is not clear if growth

hormone use will exacerbate the problem.

Sexuality and Fertility

.

 People with Down syndrome experience the same range of sexual

feelings as the general population.

Teenagers with Down syndrome undergo the same changes at

puberty as all adolescents, though these changes may be slightly
delayed for boys with Down syndrome. While the overall fertility of
men with Down syndrome may be significantly reduced, it is still
advisable that couples use contraception whenever pregnancy
prevention is desired.

About 15-50% of women with Down syndrome are fertile. Females

can use contraception without added medical risk.
Education is an appropriate and highly desirable
component in developing positive sexual awareness
for the individuals with Down syndrome.

Primary Care Physician Guidelines

For patients age 13- 21 yo
Discuss sexual development and behaviors,

contraception, sexually transmitted diseases,

recurrence risk for offspring.
Discuss physical and psychosocial changes
through puberty, need for gynecologic care in
the pubescent female

 About 15-30% of female

with DS are fertile.

People with Down syndrome experience the same

range of sexual feelings as the general population.
Teenagers with Down syndrome undergo the same
changes at puberty as all adolescents, though these
changes may be slightly delayed for boys with Down
syndrome.
While the overall fertility of men with Down
syndrome may be significantly reduced, it is still
advisable that couples use contraception whenever
pregnancy prevention is desired.
At least 50 percent of women with Down syndrome
are fertile. Healthy females can use contraception
without added medical risk.
Education is an appropriate and highly desirable
component in developing positive sexual awareness
for the individuals with Down syndrome.