Pediatric Primary Care (100 page)

3.  About 1 million children in United States have height more than 2 SD below mean for age.

D.  Clinical manifestations.

1.  Familial short stature.

a.  Growth pattern remains in its centile channel for height and weight.

b.  Family history of short stature, normal birth length/weight, normal growth rate with predicted adult height of third percentile.

2.  Constitutional growth delay.

a.  Bone age lower than chronological age.

b.  Family history reveals short stature in childhood, delayed puberty, eventual normal stature.

3.  Growth hormone deficiency.

a.  Small child with immature face, chubby body build.

b.  Rate of growth of all body parts is slow.

4.  Chromosomal disorder/Turner syndrome:

a.  Short stature.

b.  Pubertal delay.

E.  Physical findings.

1.  Familial short stature.

a.  Clinical/laboratory evidence of systemic disease or endocrine insufficiency.

b.  Annual growth rate within normal limits, growth at or below but progressing parallel to third percentile.

2.  Constitutional growth delay.

a.  Child growing at normal or near normal rate, annual growth rate of 5 cm/year, small for age.

b.  Delayed skeletal maturity.

c.  Normal thyroid and growth hormone levels.

3.  Growth hormone deficiency.

a.  Typical child with growth hormone deficiency is short, slightly overweight.

b.  When present at birth, infant may have hypoglycemia, prolonged unexplained jaundice.

4.  Chromosomal disorder/Turner syndrome.

a.  Short stature, short neck, webbing of neck, low posterior hairline, shield chest, wide carrying angle, short 4th and 5th metacarpals, narrow high arched palate, epicanthal folds, nail dysplasia, clinodactyly.

F.  Diagnostic tests.

1.  Detailed history, physical, and depending on findings, the following tests:

a.  X-ray of left hand and wrist to assess skeletal maturity.

b.  Urinalysis to assess ability to acidify and concentrate urine.

c.  Blood tests to include:

•  Urea nitrogen.

•  Creatinine. CO
₂
.

•  Electrolytes.

•  Calcium.

•  Phosphorus.

•  Alkaline phosphatase.

•  T3, T4.

•  TSH.

•  Erythrocyte sedimentation rate (ESR).

•  Somatomedin C/1GF-1.

•  Complete blood count (CBC).

d.  Female patients: karyotype for abnormalities of X chromosome.

e.  X-ray of skull: sella turcica size, abnormality of sella area.

G.  Differential diagnosis.

1.  Intrauterine growth retardation.

2.  Skeletal dysplasia.

3.  Nutritional deficiencies/second-generation anorexia.

4.  Intestinal/ gluten-induced enteropathy (celiac disease).

5.  Chronic inflammatory bowel disease.

6.  Renal disease.

7.  Cardiac disease.

8.  Diabetes mellitus.

9.  Psychosocial dwarfism, endocrine short stature, pituitary dwarfism.

10.  Cortisol excess.

H.  Treatment.

1.  Refer to pediatric endocrinologist for diagnosis and treatment.

2.  Growth hormone is continued as long as potential for growth exists and child is responding to therapy; can expect to reach normal adult height.

I.  Follow up.

1.  Monitor growth patterns in response to medications.

2.  Awareness of therapy including expected response and possible adverse reactions.

J.  Complications.

1.  Growth hormone administration: hyperglycemia, increased incidence of slipped capital femoral epiphysis.

K.  Education.

1.  Provide guidance for physical, psychologic, social development.

2.  Assist short children and their families with ways to cope with living in bigger world.

IV. DIABETES MELLITUS

A.  Type 1 diabetes: metabolic syndrome (autoimmune disease) characterized by glucose intolerance, causing hypoglycemia/lack of pancreatic hormone (insulin). Insulin is an essential hormone that allows glucose to enter insulindependent tissue such as skeletal muscle, liver, fat cells. Lack of available insulin results in catabolism and development of diabetic ketoacidosis.

B.  Etiology.

1.  Beta cell mass in islets of Langerhans of pancreas are gradually destroyed in genetically susceptible child.

2.  Triggers, such as environmental, dietary, viral, bacterial, or chemical, that induce T-cell-mediated beta cell injury and production of humoral autoantibodies.

3.  Pancreatic islet cell antibodies are found in 70-85% of newly diagnosed diabetes mellitus. Degree of beta cell destruction determined by firstphase insulin response during testing for glucose tolerance.

C.  Occurrence.

1.  Annual incidence in United States is about 11.7-17.8/100,000 per year for child population.

2.  Peak ages for presentation of diabetes mellitus: 5-7 years of age, at time of puberty; however, present in growing number of children between 1 and 2 years of age.

D.  Clinical manifestations.

1.  Polydipsia, polyphagia, enuresis in toilet-trained child.

2.  Polyuria, nocturia.

3.  Blurred vision.

4.  Weight loss, vomiting.

5.  Fatigue, decrease in activity.

6.  Cerebral edema in diabetic ketoacidosis warning signs:

a.  Headache.

b.  Lethargy.

c.  Incontinence.

d.  Seizures.

e.  Pupillary changes.

f.  Decreasing heart rate.

g.  Increasing blood pressure.

7.  Cerebral edema occurs in 1-5% of those with diabetic ketoacidosis.