74 DETECTION OF CONGENITAL HYPOPITUITAEY HYPOTHYROIDISM: 9.5 YEARS EXPERIENCE IN THE NORTHWEST REGIONAL SCREENING PROGRAM

Abstract

The Northwest Regional Screening Program (NWRSP) uses a primary T₄-secondary TSH approach to screening for hypothyroidism. Samples are obtained at 1 to 5 days of life in all infants with routine second samples by 8 weeks in infants from Oregon. In the past 9.5 years the NWRSP has screened 815,250 infants, detecting 181 with primary hypothyroidism (1:4504) and 6 with hypotituitary hypothyroidism (1:135,875). Filter paper T₄=4.9±1.2 μg/dl, TSH=<25μU/ml; serum T₄=4.2±2.9 μg/dl (N=4),free T₄=0.5±0.1 ng/dl (N=2), TSH=4.2±0.5 μU/ml. Nine additional infants with TSH deficiency were not detected by the screening program in the same time period. Five infants were begun on thyroid hormone treatment prior to obtaining the screening sample because of clinical symptoms of hypopituitarism including hypoglycemia , persistent jaundice, microgenitalia, diabetes insipidis, midface hypoplasia, clefting or vision abnormalities. Their serum T₄=4.6 ± 1.4 μg/dl (N=4), free T₄=0.3 ng/dl (N=1) TSH=6.4±4.9 μU/ml(N=4) Four infants were not detected despite clinical features of hypopituitarism (in retrospect) and low T₄ and normal TSH on at least one screening sample which was not followed up with a serum sample. Filter paper T₄=5.1±0.6 μg/dl, TSH=<25 μU/ml; serum at diagnosis (x=2.75 yr) T₄=4.9±0.7 μg/dl (N=3), free T₄ 0.6 ng/dl (N=1), TSH 4.7±2.1 μU/ml. Clinical features of hypopituitarism, present in 13 of our 15 infants, may be more helpful than newborn screening T₄-TSH measurements in detecting cases of congenital hypopituitary hypothyroidism. Combining all cases we estimate a frequency of 1:55,000.

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