ESPE Abstracts

Background: Serious mental and physical retardation are sequelae of untreated congenital hypothyroidism. These complications have become rare since the introduction of neonatal screening in Germany.

Case report: Here we report about a girl with congenital hypothyroidism, who suffered from extreme short and thickset stature, rough facial features and straw-like hair at the age of 12 years. She had been detected in newborn screening with a TSH of 132 IU/ml. Thyroid replacement therapy had been instituted with a sufficient dose at day 6 of life. At her first presentation in our clinic at the age of 12 years she reported to take L-thyroxin at a dose of 50 μg per day (1.25 μg/kg/d). Her height was 127.6 cm (−3.71 height SDS), which is 15 cm below the third percentile. Her bone age was 6½ years, hence more than 5 ½ years retarded. Her weight was 36 kg and BMI 22.1 kg/m² (SDS 1.13) and the head circumference was 53.9 cm (SDS 1.06). Her mother reported her to be in good condition, calm, fit with normal school performance. She denied symptoms of hypothyroidism such as constipation, insomnia or increased appetite. Menarche had occurred at the age of 11 even though the clinical pubertal status was still B1, P2 and pelvic ultrasound showed prepubertal ovaries and uterus.The mother reported that at frequent evaluations by her primary care pediatrician, thyroid function tests had been performed but the dose of L-thyroxin had not been adjusted. The laboratory results at presentation showed an elevated TSH of 68 mIU/l with fT4 of 12.84 pmol/l, which is in the lower normal range. Hence, we saw the clinical picture of insufficiently treated congenital hypothyroidism and we adjusted the dose of L-thyroxin to 100 μg/d. During the next months the thyroid parameters normalized, the girl became more vivid, her ‘menses’ stopped, her puberty development made normal progress and she showed a catch-up growth of nearly 12 cm in one year. Nevertheless, the mother missed follow-up dates also at our institution and had to be actively contacted to show up. The child maltreatment group in the hospital was informed.

Conclusion: This case report shows that an insufficiently treated child with congenital hypothyroidism can show nearly all symptoms of the disease. Therefore it’s highly important to reassure sufficient treatment of these patients preferably at a center of pediatric endocrinology continuously and in the long term.