MORNING REPORT

Jim Gottlieb, MD MPH May 1, 2013

Case: 4 y/o girl

Presents for a well-child exam Mother concerned about patients size.

Has

always been small but main concern is that she is not growing well.

History

HPI: Patient has a good appetite but eats very slowly therefore mother does not think she eats very much. No dietary restrictions. Eating three meals with snacks during the day. Drinks water and occasional juice about 8 oz milk per day. Bowel movements are normal and daily. PMH: Healthy, no hospitalizations, no chronic illnesses. Term NSVD BW 6lb 2oz. 19inches. MEDS: Children's multivitamin ALL: None PSH: Negative FH: Maternal uncle with short stature, on GH. Negative for CF, celiac, autoimmune disease, immune deficiencies. SH: Lives with mom, dad, 2 siblings. No daycare. ROS: Negative for fever, vomiting, diarrhea, constipation, greasy foul smelling stools, frequent or recurrent infections, developmental delays, malaise, fatigue, no signs of premature puberty, body odor. Development: Using full sentences 100% intelligible, able to balance on 1 foot, can copy a circle and draw a cross, dresses self with little help. IMMUNIZATIONS: Up to date

Physical Exam
VS: Wt 13.5kg (9%tile) Ht 94cm (5%tile) BMI 15.3 BP: 98/58 HR 92 RR 16 Vision: 20/20 OU GEN: Alert, interactive, no apparent distress, generally small for age HEENT: Normocephalic, OP clear, TM normal, MMM, dentition normal, PERRLA, no dysmorphic features NECK: Supple, no masses, no LAD, full ROM CHEST: CTAB, no distress, no breast tissue CV: RRR, normal S1 S2, no murmur, normal pulses ABD: S/NT/ND, no masses, no HSM, normal BS BACK: No scoliosis GU: Tanner I female external genitalia EXT: Warm and well perfused, no edema SKIN: No rashes, lesions, birthmarks NEURO: Normal tone and strength, reflexes, cranial nerves, sensation, coordination, gait

Differential Diagnosis and Lab/Imaging Evaluation

Differential Diagnosis for Short Stature

Familial short stature: small parents, timing of puberty is normal, normal bone age Constitutional delay: average parental Ht, delayed puberty, delayed bone age IUGR - most infants with IUGR catch up during the first year of life but one-third do not Chromosomal: Trisomy 21, Turner syndrome Nonchromosomal: Noonan and Russell-Silver syndrome Severe malnutrition Chronic renal failure Cancer- chemotherapy, previous cranial radiation, pituitary tumor Cushings syndrome Pulmonary Disease: Cystic fibrosis, severe asthma Cardiac disease Gastrointestinal: IBD, Celiac Disease Immune Deficiency: HIV/AIDS, SCID Endocrine: Hypothyroidism, GH deficiency, GH insensitivity Skeletal dysplasia - may be disproportionate, eg, short limbs Nutritional/psychosocial deprivation/neglect

Short Stature

2 SD below the mean for Ht, progressively slowed growth velocity Normal growth
Infantile phase (0-24m): Rapid but decelerating growth. Crossing percentiles is common. Childhood phase: Relatively constant growth velocity 5-7cm/year. Crossing percentiles from Age 3y-puberty is concerning. Pubertal phase: Characterized by growth spurt 8-14 cm/year. Crossing percentiles is common.

Short Stature: Evaluation

Importance of an accurate measurement Length measured supine 0-24m Height measured standing >24 months Evaluating trends over time

Prediction of Ht potential 1. mid-parental height Girls: [(fathers Ht 13cm) + mothers Ht] /2 Boys [(mothers Ht + 13cm) + fathers Ht] /2 Value +/- 8.5cm represents 3rd and 97th percentiles Case: Mother 56 = 167.6cm and Father 62 = 188cm [(188-13) + 167.6] /2 = 171cm = 57 1/3 = 75%tile 2. bone age: radiograph of L hand and wrist

Systemic disease:
Underweight

with preserved linear growth

Severe

malnutrition Malabsorption
Celiac IBD

Endocrine disease:
Preserved

weight or obesity with poor linear growth

Growth

hormone deficiency Cushings disease Hypothyroidism

Back to Our Patient

CBC: WBC 6

Hct 34.3 Hgb 11.4 Plts 303

(32 PMN, 54 L, 10 M, 3 E)

CMP: Na 144 K 4.0 Cl 103 HCO3 28 BUN 16 Cr 0.68 Ca 9.9 Prot 7.9 Alb 4.9 Tbili 0.3 Alk Phos 106 ALT 57 AST 85 IGF-1: 56 (nl 32-179) TSH: 833 (nl 0.7-5.9) free T4: <0.40 (nl 0.7-2.4)

Endocrine consultation

Additional physical findings:

Gritty

texture of thyroid Myxedematous facies

Hypothyroidism, likely autoimmune degeneration Synthroid Lab evaluation under way

References

Chianese, J. 2005. Short Stature. Pediatrics in Review. DOI: 10.1542/pir.26-1-36. Grimberg, A. 2005. Sex differences in patients referred for evaluation of poor growth. J Pediatr. 146:212.

Rosenfiend. R. L. 1996. Essentials of growth diagnosis. Endocrinol Metab Clin North Am. 25: 743.