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Short Stature

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  • 1. “Is my child too short?” Theresa A. Allison, M.D., M.Mus. UCSF/CHN Family Practice Residency Program Patient Care Conference
  • 2. The Case:T.T. ID/CC: Vietnamese boy with devoted parents (born in June, 2003) first seen in my clinic at 14 months of age for routine well-child care PMH:  Pulmonic stenosis, followed at UCSF  Recurrent URI’s including AOM x 3 (eventually leading to diagnosis of mild, intermittent asthma)  S/P term NSVD to a 38 y/o G3P12 with mild neonatal hyperbilirubinemia, and a negative r/o sepsis  Micrognathia, 5th digit campylodactyly & brachydactyly evaluated by Genetics at birth
  • 3. The Case: T.T. FH: 4 y/o brother had Kawasaki’s, now doing well. Uncle with asthma. SH: lives with parents, both Vietnamese, and one sibling. Supportive home environment ROS: poor eating during multiple URI’s, including 3 episodes AOM, and 2 episodes of gastroenteritis Clinical concern: “Falling off” his growth curve
  • 4. Is the child too small? Standardized Growth Charts Individual curves “Failure to Thrive” (FTT) and “Idiopathic Short Stature” (ISS)
  • 5. Growth Chart from Birth to 15 months
  • 6. Growth Chart from Birth to 15 months
  • 7. Growth Chart from Birth to 15 months
  • 8. Growth Chart from Birth to 15 months
  • 9. Failure to Thrive Syndrome Less than 3rd or 5th percentile by weight or length2,3,6,7 Growth curve that has crossed two standard deviations in a short time2,3,6,7 A fall to less than 75% of median weight- for height in children less than 2 y/o7 Caveats: no underlying medical disorder and lasting at least 12 months7
  • 10. Failure to Thrive Differential Diagnosis: 1. Environment 2. Nutrition 3. Disease 4. Hormonal Deficiencies 5. Genetic Disorders
  • 11. 1. Environment Neglect: inadequate intake equals inadequate resources for growth Growing evidence that growth hormone, like the rest of the HPA, is affected by stress levels Psychological dwarfism: obscene extreme of neglect, marked by short stature, bizarre behavior and limited speech (Remember, this child has devoted parents! The above is for learning, and is not this patient’s problem)
  • 12. 2. Nutrition (Excluding neglect) Affected greatly by acute illnesses, like URIs and gastroenteritis Inadequate food choices and intake: Toddlers are notoriously picky but, over time, they tend to get what they need
  • 13. 3. Disease Nelson Textbook of Pediatrics (Table 36-1): Major Organic Causes of Failure to Thrive System Cause Gastrointestinal Gastroesophageal reflux, celiac disease, pyloric stenosis, cleft palate/cleft lip, lactose intolerance, Hirschsprung's disease, milk protein intolerance, hepatitis, cirrhosis, pancreatic insufficiency, biliary disease, inflammatory bowel disease, malabsorption, food alkalines Renal Urinary tract infection, renal tubular acidosis, diabetes insipidus, chronic renal insufficiency Cardiopulmonary Cardiac diseases leading to congestive heart failure, asthma, bronchopulmonary dysplasia, cystic fibrosis, anatomic abnormalities of the upper airway, obstructive sleep apnea (snoring) Endocrine Hypothyroidism, diabetes mellitus, adrenal insufficiency or excess, parathyroid disorders, pituitary disorders, growth hormone deficiency
  • 14. 3. Disease Nelson Textbook of Pediatrics (Table 36-1): Major Organic Causes of Failure to Thrive (continued) System Cause Neurologic Mental retardation, cerebral hemorrhages, degenerative disorders Infectious Parasitic or bacterial infections of the gastrointestinal tract, tuberculosis, human immunodeficiency virus disease Metabolic Inborn errors of metabolism Congenital Chromosomal abnormalities, congenital syndromes (fetal alcohol syndrome), perinatal infections Miscellaneous Lead poisoning, malignancy, collagen vascular disease, recurrently infected adenoids and tonsils
  • 15. First Interlude Birth and routine well-child care  At delivery, the patient was found to have a harsh III/VI systolic murmur and he had evaluation by the Cardiology and Genetics services (ruled out for genetic issues)  At his outpatient visits (up to 1 year), T.T.’s growth was on a reasonable curve, so no workup was initiated  Lead and anemia screening, per routine for WIC: Hgb/HCT: 11.6/31.8 MCV: 69.7  Empiric initiation of iron was discussed with T.T.’s mother, as there was no FH of thalassemia
  • 16. 3. Disease as a nutrition issue Anemia  the oxygen-carrying component Includes sickle cell anemias, thalassemias* and iron deficiency anemia Celiac and other GI Disease  inadequate absorptive ability secondary to gut lining issues Chronic Kidney Disease  protein deficiency due to protein loss
  • 17. 3. Disease as a nutrition issue Chronic Lung Disease (cystic fibrosis and asthma*)  hypoxia and breathing requirements interfere with the mechanics of eating Congenital Heart Disease* (cyanotic lesions and left-to-right shunts)  oxygenation requirements interfere with both the mechanics of eating and the metabolic requirements of digestion Illness and injury  Decreased ability to take in nutrients and increased metabolic requirements
  • 18. Second Interlude T.T. has pulmonic stenosis, initially moderate, improving with growth to a mild case. At this point, he does not require balloon valvuloplasty per his mother Parent agrees to bring in contact information for Pediatric Cardiologist at UCSF to discuss patient’s case (last consult note from 11/2003)
  • 19. Pulmonic Stenosis Differs from other cardiac lesions with respect to growth One study suggests that mild PS has a near normal distribution of growth, and Severe PS actually is marked by small but significant increase in growth for unclear reasons5
  • 20. 4. Hormonal deficiencies Isolated Growth Hormone Deficiency: the hot topic, as the availability of manufactured GH opens up the option of “cosmetic endocrinology” Hypothyroidism “Acquired hypothyroidism can present as early as the first 2 years of life with deceleration of growth as the first manifestation”6 Any derangement of the HPA axis via alterations in metabolic state and feedback mechanisms that involve growth hormone
  • 21. 5. Genetic Disorders When to suspect the zebras? Dysmorphic features Developmental delay Cosanguinity Family History
  • 22. 5. Genetic Disorders Turner’s syndrome Down’s syndrome Achondroplasia and other Skeletal dysplasias Zebras Many rare genetic disorders, only some of which have associations with other disabilities
  • 23. Constitutional Short Stature (ISS) In the rush to give everything a diagnosis, we even have a name for normal, “idiopathic short stature” As long as the child is staying on a curve, we are reassured Once a child falls off of the curve or loses weight, we need to think about the appropriate workups
  • 24. Third Interlude At his most recent visit, TT’s mother says “But he is bigger than the 16 month old Vietnamese girl he usually plays with. What does that mean?” Is the child the right size for that child, or is he developing as normally as he should? At what point do we need to embark on a workup?
  • 25. Vietnamese Growth Chart
  • 26. The Workup for FTT Labs: CBC, LFTs, Renal panel, urinalysis. Consider TSH, ESR, Insulin Growth Factor-BP3 (IGF-BP3), Insulin Growth Factor 1 (IGF-1), specific antibody testing for celiac disease, karyotyping. In this case consider a hemoglobin electophoresis Do not do a growth hormone stimulation test1 Bone age: plain film left hand to evaluate ossification, consider a skeletal survey Referral to the appropriate specialty as indicated
  • 27. Treatment Options at SFGH UCSF Pediatric Gastroenterology: Because so much of growth failure is due to nutritional issues, our pediatrics GI service has a formed strong collaborative program with Nutrition in order to maximize nutritional status UCSF Pediatric Endocrinology: If indicated, may require evaluation for growth hormone replacement UCSF Genetics: UCSF has leading experts in both dysmorphology and genetic testing
  • 28. Workup and Treatment for T.T. TREAT WHAT YOU KNOW Re: anemia, T.T.’s mother had opted to increase organ meats in his diet and had not started FeSO4. Contracted with mother to initiate FeSO4 while awaiting results. Screen for thalassemia because a positive result  d/c FeSO4 Re: Asthma: 6M clinic had referred patient to Asthma clinic for further evaluation and testing. He received one home visit but did not f/u in clinic. Appointment now scheduled for March Flu vaccine, childhood immunizations up to date
  • 29. Workup and Treatment for T.T. At his last visit, the 19 month old pt ate a good- sized peanut butter sandwich during the history, and per mother’s report feeding is no longer an issue Given ABSENCE OF WEIGHT GAIN, check bone age and labs to rule out anything ominous or treatable Lots of reassurance, as this child may well be just the right size for himself and recovering from an illness-malnutrition cycle Weight check in one month
  • 30. “Is my child too small?” Research on the psychological effects of short stature  Controversy over use of growth hormone for ISS  Child’s sense of his/her own size appears to be more important than actual size in terms of self- image  Data on psychological effects of short stature is for the most part of poor quality design8. There is no solid evidence that short stature is inherently, psychologically damaging.
  • 31. References 1. Badaru, A. and D.M. Wilson. “Alternatives to Growth Hormone Stimulation Testing in Children.” Trends in Endocrinology and Metabolism. 15(6): 252-258. 2004. 2. Behrman, R.E. et al. Nelson Textbook of Pediatrics, 17th ed. Philadelphia:Saunders. 2004 3. Blair, P.S., et al. “Family, Socioeconomic and Prenatal Factors Associated with Failure to Thrive in the Avon Longitudinal Study of Parents and Children (ALSPAC). International Journal of Epidemiology. 33(4): 839847. 2004. 4. Erling, A. “Why Do Some Children of Short Stature Develop Psychologically Well While Others Have Problems?” European Journal of Endocrinology. 151:S35-S39. 2004.
  • 32. References, continued 5. Ferber, B. et al. “Accelerated Weight Gain with Pulmonic Stenosis.” Pediatric Cardiology. 18(1):8-10. 1997. 6. Gunn, V.L. and C. Nechyba, eds. The Harriet Lane Handbook: A Manual for Pediatric House Officers. Philadelphia: Mosby. 2002. 7. Perrin, E.C. et al, investigators. “Criteria for Determining Disability in Infants and Children: Failure to Thrive.” Evidence Report/Technology Assessment. Number 72. Rockville, MD: Agency for Healthcare Research and Quality. 2003. www.ahrq.gov. 8. Voss, L.D. and D.E.Sandberg. “The Psychological Burden of Short Stature: Evidence Against.” European Journal of Endocrinology. 151:S29-S33. 2004.

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