But …not all babies with congenital hypothyroidism look abnormal!
10 % detected within first 4 months of life 35 % detected within 3 months of birth 70 % detected within first year 100 % detected within 3 to 4 years Clinical Detection Rate before universal screening
Neonatal Screening Filter paper blood spots collected on day 7 Sample analysed for TSH concentration Infants with whole blood TSH > 20 - 30 mU/l notified to G.P. & designated paediatrician. Infant seen, serum sample collected, treatment commenced.
l-Thyroxine, 100 mcgs/m 2 .day p.o.
Serum Free T4, TSH
A.B. Female . Born 26/2/94 Day 1 - Normal birth, birth weight 3.14 kgs @ 38 weeks gestation. Neonatal examination normal Day 7 - Neonatal Biochemical Screening Test: Day 12 - Whole Blood TSH 250 mU/l, result notified to G.P. & PSW. Day 13 - Seen in Children’s Day Bed Unit: Quiet baby, fading jaundice, dry skin. Serum sample taken. Thyroxine 25 mcg o.d prescribed
Initial Results : Total thyroxine 40 nmol/l (n. 60 - 160) T.S.H. 290 mIU/l (n. 0.17 - 2.9) Diagnosis of congenital hypothyroidism confirmed
Progress: 25/4/94 D.N.A. 23/5/94 Total thyroxine 90 nmol/l TSH 29.2 mIU/l L-Thyroxine to 50 mcg o.d 1/8/94 Total thyroxine 114 nmol/l TSH 0.16 mIU/l
7/11/94 Well, growing normally Free Thyroxine 6.0 pmol/l (n. 11.7-28) TSH 94.2 mU/l Results suggested insufficient dose. L-thyroxine increased to 75 mcg o.d Dose equivalent to 180 mcg/m 2 .day
October 1995 District Nurses visited daily to administer l-thyroxine 75 mcgs od. Free Thyroxine 41.4 pmol/l TSH 0.7 mU/l Conclusion?
7/11/95 l-thyroxine reduced to 50 mcgs 28/11/95 Free T4 41.4 pmol/l TSH 7.2 mU/l 4/12/95 D.N.A. 22/1/96 Brought to clinic by father Free T4 44 pmol/l TSH 1.4 mU/l
29/4/96 D.N.A. 3/6/96 D.N.A. H.V. discovered that G.P. records showed no prescriptions had been collected since November 1995 Concerns discussed with Child Care Social Work Dept. & N.S.P.C.C. Child Protection Officer.
14/6/96 Free T4 21.9 pmol/l TSH 19.72 mU/l 24/6/96 Mother insists thyroxine being given regularly. July ‘96 Divorce proceedings. Request from mother’s solicitors for medical information.