1. Rob Lindsay, MD Adjunct Professor of Pediatrics University of Utah School of Medicine

6. 10 year old girl with documented autoimmune (Hashimoto) thyroiditis and hypothyroidism. Her initial TSH was > 1000mU/L.

9.  Type 1 Diabetes Mellitus  Down Syndrome  Turner’s Syndrome  Celiac Disease  Klinefelter’s Syndrome

10.  Serum Free T 4 and TSH are sufficient  Serum T 3 levels often misleading  If measuring total T 4 also do T 3 resin uptake or thyroid binding protein  Antithyroglobulin and antithyroid peroxidase antibodies  Thyroid imaging rarely indicated

12. NHANES III (1988 – 1994) Adolescents 12-19 years of age  6.3% positive antithyroglobulin  4.8% positive antithyroid peroxidase antibodies  2:1Female:Male

13. 105 children with positive antibodies and normal TSH followed for 5 years:  65% remained euthyroid  10% developed mild TSH elevation  26% developed TSH twofold above normal

14. 55 children with positive antibodies and mildly elevated TSH levels:  29% reverted to normal TSH  29% were unchanged  42% developed TSH twofold above normal

34.  1:3000 to 1:4000 in newborn infants  More common in Hispanic and Native American infants at 1:2000  Less common in African American infants at 1:32,000  Consistently 2:1 Female:Male

35.  85% are sporadic – 15% hereditary  90% permanent – 10% transient

38.  Only 5% suspected by clinical diagnosis ◦ At time of newborn screen ◦ At 2-3 weeks of age  Birth weight and length normal  OFC slightly increased  Gestational age > 42 weeks in 33%

39.  Primary T 4 measurement with backup TSH  Primary TSH measurement  Recall rate (T 4 20 mU/L ◦ Primary T 4 - 0.3% ◦ Primary TSH – 0.05%

40.  Free T 4 – Upper half of normal range: ◦ 1.4 – 2.3 ng/dl  TSH < 10 mU/L ◦ May take one month of treatment

42.  Before Newborn Screening: ◦ If diagnosed between birth and 3 months  IQ = 89 ◦ If diagnosed between 3 and 6 months  IQ = 71 ◦ If diagnosed after 6 months  IQ = 54

43. 1 year-old child with undiagnosed/untreated congenital hypothyroidism who was born before national screening programs for this condition. She was treated with replacement thyroid hormone, and 6 months later had a more normal facial appearance but significant developmental delays due to delay in diagnosis and treatment.

44.  New England Congenital Hypothyroidism Collaborative ◦ Verbal IQ 109 ◦ Performance IQ107 ◦ Full Scale IQ109 At 6 years of age.

45.  New England Congenital Hypo- thyrodism Collaborative ◦ Inadequate treatment in first 3 years IQ = 87

46. A small proportion may have:  Language deficits  Problems with visual-spatial integration  Ataxia  Gross and fine motor incoordination  Muscle tone abnormalities  Short attention span  Strabismus  10% will have sensorineural deafness

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