Severe consumptive hypothyroidism caused by multiple infantile hepatic haemangiomas

J Pediatr Endocrinol Metab. 2018 Jul 26;31(7):823-827. doi: 10.1515/jpem-2018-0055.

Abstract

Background Infantile hepatic haemangiomas (IHHs) produce an excess of the thyroid hormone inactivating enzyme type-3 iodothyronine deiodinase (D3), leading to rapid degradation of thyroid hormones and consumptive hypothyroidism. The L-thyroxine replacement dose in patients with consumptive hypothyroidism is inappropriately higher than that in congenital hypothyroidism. Case presentation A 4-month-old boy presented with abdominal distention. Thyroid function tests (TFTs) revealed an elevated thyroid-stimulating hormone (TSH) level of 177 mU/L, normal free thyroxine (fT4) of 1.23 ng/dL, low free tri-iodothyronine (fT3) of 1.55 pg/mL and increased reverse T3 (rT3) of 1240 ng/dL. Abdominal ultrasound and magnetic resonance imaging (MRI) revealed multiple IHHs. Based on his TFTs, ultrasonography and MRI evidence, he was diagnosed with consumptive hypothyroidism, and L-thyroxine replacement at 15 μg/kg/day was started. The L-thyroxine dose was increased gradually to 35 μ/kg/day until a stabilising euthyroid status was achieved. By the age of 8 months, the TSH concentration was decreased to normal levels; the L-thyroxine dose was gradually reduced and finally discontinued at the age of 12 months. Repeat abdominal ultrasound and MRI revealed a reduction in the number and size of the haemangiomas. The TFTs were at normal reference levels. The patient remains in active follow-up. Conclusions Neonatal screening for congenital hypothyroidism is usually negative in cases of IHH, as seen in our case. A high index of suspicion is necessary to diagnose hypothyroidism in cases of IHH. The present case required very high doses of levothyroxine to achieve a euthyroid status. In cases of hypothyroidism in the first year of life with consumptive hypothyroidism caused by hepatic haemangioma, aggressive L-thyroxine replacement is required with no upper limit. The dose should be increased gradually until a stabilising euthyroid status is achieved.

Keywords: consumptive hypothyroidism; infantile hepatic haemangioma; type 3 iodothyronine deiodinase.

Publication types

  • Case Reports

MeSH terms

  • Congenital Hypothyroidism / drug therapy
  • Congenital Hypothyroidism / etiology*
  • Congenital Hypothyroidism / pathology
  • Hemangioma / complications*
  • Humans
  • Infant
  • Liver Neoplasms / complications*
  • Male
  • Prognosis
  • Severity of Illness Index*
  • Thyroid Hormones / metabolism
  • Thyroxine / administration & dosage

Substances

  • Thyroid Hormones
  • Thyroxine