Article Text

SCREENING DIFFICULTIES IN CONGENITAL HYPOTHYROIDISM: A CASE SERIES
  1. S I Iurian1,
  2. B Neamtu1,
  3. M L Neamtu1,
  4. I G Totoianu2,
  5. H Jidveianu3,
  6. C Berghea Neamtu3
  1. 1Pediatric Clinic, Pediatric Hospital, Sibiu, Romania
  2. 2Endocrinology Clinic, Clinical Hospital, Sibiu, Romania
  3. 3Pediatric Surgery Clinic, Pediatric Hospital, Sibiu, Romania

Abstract

Objectives To emphasize the screening flaws regarding 2 cases with normal TSH values at birth who were later diagnosed with hypothyroidism.

Methods The authors present 2 cases. First case, a 1 month old neonate, was admitted for impaired suction and growth. The clinical examination revealed jaundice, epicranial haematoma, shineless hair and umbilical hernia. The second case, a 4 year old girl, was investigated in the context of mental retardation. The clinical exam has shown obesity, mental retardation and severe speech delay.

Results In the first case, the investigations have shown ABO incompatibility, increased bilirubin blood level, increased TSH level and low levels for FT3 and FT4 hormones. In the second case, the thyroid function tests have revealed very low levels not only for TSH, but also for thyroid hormones.

Conclusions The differential diagnoses were made for persistent neonatal jaundice in the first case and for obesity and mental retardation in the second case. The screening procedures in our country for hypothyroidism need to be re-evaluated: it is mandatory to complete the evaluation of the thyroid function (TSH, FT3 and FT4) in cases with low TSH levels.

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