Short Stature

Short Stature: Excerpt from The 5-Minute Pediatric Consult

Mitchell R. M. Schwartz, MD

Short Stature - BASICS

Short Stature - description

• Short stature is defined as height below the 3rd percentile, but many pediatricians use the 5th percentile as the cutoff.
• Growth failure refers to downward crossing of the height percentile over the normal curves and eventually leads to short stature. With evidence of growth failure, diagnostic evaluation is required, even if short stature is not yet present.
• Failure to thrive refers to infants and children who fail to gain weight and often lose weight. They may or may not be short and are underweight for height.

Short Stature - DIAGNOSIS

Short Stature - signs & symptoms

Short Stature - history

• Child short for his or her parents:
  • Midparental height is calculated to estimate the expected target height.
    • To calculate midparental height for a boy, add his father’s height to his mother’s height plus 13 cm, and divide by 2.
    • To calculate midparental height for a girl, add her mother’s height to her father’s height minus 13 cm, and divide by 2.
  • If the child’s height percentile is out of keeping with the calculated target height, this is likely significant.
• Child’s growth (or height) velocity: Height velocity for a specific interval can be annualized and plotted on a height velocity curve. This becomes an important criterion in a patient’s growth and is different from height at any point in time, which, for a major part, is a representation of the influence of things past.
• Weight-to-height ratio: Usually increased in hypothyroidism, Cushing syndrome, pseudohypoparathyroidism, and growth hormone (GH) deficiency. Normal or decreased in emotional deprivation, anorexia, chronic renal failure, renal tubular acidosis, inflammatory bowel disease, malabsorption, malnutrition, lung and heart disease
• Complications during pregnancy, labor, and delivery: Clues from the pregnancy can provide information about possible maternal disorders, intrauterine drug exposure, or placental abnormalities that lead to intrauterine growth retardation (IUGR). Birth trauma can be associated with hypopituitarism.
• Familial history.
  • What are the heights of the parents and grandparents?
  • What are the heights of the siblings?
  • Was puberty on time in both parents? Any history of endocrine disorder or chronic illness affecting a major organ system?
    • Calculate midparental height. If short stature is running in the family, this could point toward familial or genetic short stature, isolated GH deficiency, or skeletal dysplasia.
    • Delayed pubertal maturation in the parents is important for a diagnosis of constitutional growth delay.
    • Disorders such as diabetes mellitus and insipidus, thyroiditis, hypophosphatemic rickets, arthritis, and inflammatory bowel disease can affect different family members.
• Social situation: Emotional stresses affect growth and development, either directly (abnormal GH production) or indirectly (inadequate nutrition).
• Current eating habits and past dietary history (evidence of underuse of calories ingested): Estimate approximate total daily caloric intake. Detect deficiencies in certain nutrients or the existence of abnormal eating habits (malabsorption, rickets, anorexia, inadequate parenting).
• Chronic illness or any hospitalization, surgery, or trauma to the head: Chronic disorders can present with growth failure 1st, without specific symptoms (rheumatoid arthritis, celiac disease), and a previous hospitalization or surgery could be a clue for an underlying pathology (jaundice and hepatitis [chronic liver disease], asthma exacerbation and high-dose corticosteroids, head trauma, and pituitary insufficiency).
• The history should be completed by obtaining a detailed review of systems, with specific questions inquiring about the occurrence of headache, vomiting, visual disturbance (brain tumor), anorexia, diarrhea or constipation (bowel disease, hypothyroidism), polyuria and polydipsia (diabetes mellitus, diabetes insipidus, and renal problems), and medication as well as activity pattern, sleep hygiene, and general development.

Short Stature - physical exam

• Abnormal upper/lower segment ratio: Primary short stature
• Low weight/height ratio: Points toward malnutrition
• Edema: Chronic renal failure
• Frontal bossing, flat nasal bridge, and truncal fat deposition: GH deficiency
• Abdominal distention and gluteal wasting: Malabsorption and celiac disease
• Webbed neck, increased carrying angle, shield chest: Turner syndrome
• Smooth tongue: Iron deficiency
• Round face, ear lobe abnormality, and mental retardation: Pseudohypoparathyroidism
• Temporal thinning of the hair, sparse hair, dry hair: Hypothyroidism, GH deficiency, hypopituitarism
• Delayed pubertal maturation: Turner syndrome, constitutional delay, hypopituitarism, hypothyroidism, inflammatory bowel disease, chronic renal disease
• Leg bowing, rachitic rosary, widening of wrists: Rickets, malabsorption

Short Stature - tests

Short Stature - lab

• If no specific cause is found, screening tests are indicated.
• CBC and differential: Anemia, infection, leukemia
• Sedimentation rate: Infection, inflammation
• Electrolyte panel, glucose: Renal disorders, diabetes mellitus, and diabetes insipidus
• Metabolic panel: Malnutrition, liver problem, bone disorder, pseudohypoparathyroidism
• Urinalysis: UTI, diabetes, renal disorder, metabolic problem
• Thyroxine and thyroid-stimulating hormone: Hypothyroidism, hypopituitarism
• X-ray study of the left hand and wrist: Bone age determination
• Karyotype: Turner syndrome in short girls, chromosomal disorders
• IGF-I and IGFBP-3 concentrations: Shows little fluctuation over 24 hours, but interpretation of values needs to take age-related norms into account. IGF-I and IGFBP-3 are low in GH deficiency, but can also be low due to hypothyroidism, chronic illness, or poor nutrition. Normal IGF-I and IGFBP-3 concentrations make GH deficiency less likely.

Short Stature - differencial diagnosis

• Extremes of normal growth
• Familial short stature:
  • Short parent(s)
  • Normal height velocity
  • Normal age of onset of puberty
  • Normal bone age
  • Short stature throughout childhood
  • Final adult height close to the midparental height and around the 3rd or 5th percentile
• Constitutional short stature/delay of growth:
  • Height percentile below the target range defined by parental heights
  • Delayed bone age
  • Reduced height velocity (especially in late childhood–below 25th percentile)
  • Associated with delay of puberty, positive family history, usually boys
  • Final adult height in the normal range and commensurate with target height
• Idiopathic short stature:
  • Used to categorize patients otherwise normal, who cannot be diagnosed with a variant of normal growth or any of the causes of short stature. May not always turn out to be a true normal variant.
  • This is a diagnosis of exclusion and groups patients whose calculated predicted height is >2 standard deviations (SD) below the midparental height, whose height is below the 5th percentile, with or without delay of skeletal maturation, and without identifiable diagnosis after appropriate evaluation.
• Primary short stature:
  • Usually the consequence of an abnormality of the skeletal system. Bone age often not delayed or only delayed mildly
  • Skeletal defect can be primary or secondary to a metabolic abnormality. This may lead to disproportionate short stature and/or significant dysmorphism. Occasionally, the skeletal abnormalities are subtle and do not lead to disproportionate short stature.
• Skeletal dysplasia:
  • Osteochondrodysplasia
  • Genetic transmission (many cases represent new mutation)
  • Defects in growth of tubular bones and/or axial skeleton
  • Typical radiologic findings on skeletal survey radiograph
  • More common forms (achondroplasia, hypochondroplasia)
• Short stature due to congenital error of metabolism:
  • Diffuse skeletal involvement
  • Mostly autosomal recessive inheritance
  • Dysmorphic features
  • Typical biochemical abnormalities
  • More common type (mucopolysaccharidosis)
• Chromosomal abnormalities:
  • Autosomes or sex chromosomes
  • Usually associated with other somatic abnormalities or mental retardation
  • Clinical findings may be subtle (mosaicism).
  • More common forms: Trisomy 21, -18, -13, and Turner syndrome
• IUGR:
  • Often with poor postnatal growth
  • Cause for IUGR may come from mother, fetus, or placenta
  • Primordial dwarfism: Due to intrinsic fetal defect leading to both prenatal and postnatal growth failure (may be associated with specific genetic anomaly)
  • IUGR is seen in congenital infection, fetal exposure to toxin, placental abnormalities, maternal disease, Russell–Silver syndrome, and other congenital anomalies.
• Secondary short stature:
  • Malnutrition:
    • Especially <2 years of age (most common in 1st 6 months of life)
    • Caloric (malnutrition and/or protein) malnutrition
    • Vitamin and mineral deficiencies (vitamin D, iron, zinc deficiency)
  • Chronic illness:
    • Many chronic diseases present 1st with poor growth.
    • Cardiovascular: Ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, transposition of the great vessels, aortic stenosis, pulmonic stenosis, aortic coarctation, atrioventricular (AV) canal
    • Pulmonary: Asthma, cystic fibrosis, bronchopulmonary dysplasia
    • GI/Liver: Inflammatory bowel disease, celiac disease, malabsorption, short-bowel syndrome, chronic gastroenteritis, cystic fibrosis
    • Renal: Nephrotic syndrome, chronic glomerulonephritis, renal tubular acidosis, chronic renal failure, nephrogenic diabetes insipidus, uropathy, congenital anomalies
    • Metabolic: Poorly controlled diabetes mellitus, storage disorders, chronic infections (HIV), and immune deficiencies
    • Hematopoietic: Anemia, leukemia, sickle cell disease
  • Drugs:
    • Corticosteroids
    • Sex steroids
    • Methylphenidate, dextroamphetamine
  • Psychosocial growth retardation
• Endocrine short stature: Among secondary short stature, endocrine causes are least frequent.

Short Stature - TREATMENT

Short Stature - general measures

General goal: Determine if the patient has short stature and/or growth failure. Determine if height alone is affected, or if growth problem includes weight and head circumference.

• Phase 1: Determine if patient’s profile fits normal variant of growth.
• Phase 2: Determine if patient’s profile fits with pathologic short stature.
• Phase 3: Screening evaluation, referral to pediatric endocrinologist, or observation

Short Stature - FOLLOW UP

Short Stature - disposition

Short Stature - issues for referral

• Flat growth curve, delayed bone age, abnormal thyroid test, poorly controlled diabetes, physical findings consistent with GH deficiency, hypothyroidism, rickets
• Protein-losing enteropathy, malabsorption, hepatic disorder
• Chronic lung disease, abnormal sweat chloride test
• Congenital heart disease, occult cardiac disease
• Elevated creatinine, low serum bicarbonate, abnormal urinalysis
• Growth failure is usually a relatively slow or subacute process and therefore does not require emergency workup. It is of basic importance, however, to pay special attention to correct measurements of height, weight, and head circumference, to evaluate the abnormally growing child adequately.

Short Stature - bibliography

1. Bryant J, Cave C, Milne R. Recombinant growth hormone for idiopathic short stature in children and adolescents. Cochrane Database Syst Rev. 2003;(4):CD004440.
2. Chow EJ, Friedman DL, Yasui Y, et al. Decreased adult height in survivors of childhood acute lymphoblastic leukemia: A report from the childhood cancer survivor study. J Pediatr. 2007;150(4):370–375. Comment in J Pediatr. 2007;150(4):332–334.
3. Lee JM, Davis MM, Clark SJ, et al. Threshold of evaluation for short stature in a pediatric endocrine clinic: Differences between boys versus girls? J Pediatr Endocrinol Metab. 2007;20(1):21–26.
4. Lee PA, Kendig JW, Kerrigan JR. Persistent short stature, other potential outcomes, and the effect of growth hormone treatment in children who are born small for gestational age. Pediatrics. 2003;112(1 pt 1):150–162.
5. Rapaport R. Idiopathic short stature. N Engl J Med. 2006;355(11):1178; author reply 1178.
6. Wheeler PG, Bresnahan K, Shephard BA, et al. Short stature and functional impairment: A systematic review. Arch Pediatr Adolesc Med. 2004;158(3):236–243.

Short Stature - CODES

Short Stature - icd9

• 783.43 Short stature

Book Source Details

• Book Title: The 5-Minute Pediatric Consult
• Author(s): M. William Schwartz MD; et al.
• Year of Publication: 2008
• Copyright Details: The 5-Minute Pediatric Consult, Copyright © 2008 Lippincott Williams & Wilkins.

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More About This Book: Title: The 5-Minute Pediatric Consult Authors: M. William Schwartz MD; et al. Publisher: Lippincott Williams & Wilkins Copyright: 2008 ISBN: 0-7817-7577-9

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