Endocrine Abstracts

Introduction: The occurrence of apparent epiphyseal dysplasia, which is a manifestation of untreated congenital hypothyroidism, was extensively documented in the 1940s. However, this condition has become rare in the past few decades due to the implementation of neonatal thyroid screening.

Case Description: We present a case report of an 18-year-old adolescent male who presented to the emergency department with fever and altered sensorium. He had signs of meningeal irritation, and cerebrospinal fluid analysis suggested tubercular meningitis. On examination, he had stigmata of hypothyroidism in the form of short stature (height: 128 cms; z score: -6.1), puffiness of the face, skin dryness, and delayed relaxation of the ankle reflex. His sexual maturity rating revealed the absence of pubic hair and a testicular volume of 20 ml bilaterally, suggesting macro-orchidism. The results of his thyroid profile indicated that he had primary hypothyroidism, with a TT3 level of 0.4 nmol/l (1.2-2.8 nmol/l), a TT4 level of 3.8 nmol/l (60-160 nmol/l), and a TSH level of more than 100 mIU/l (0.36–5.4 mIU/l). Ultrasonography of the neck revealed bilateral small lobes of the thyroid (right 0.16 cc and left 0.18 cc). His bone age was six years, according to the Greulich-Pyle method. The skeletal survey showed irregular and fragmented bilateral proximal femoral epiphysis, irregular distal femoral and proximal tibial epiphyses with a stippled appearance, and flattened vertebrae with reduced height suggestive of spondyloepiphyseal dysplasia. Given his long-standing hypothyroidism, he was started on 25 mg of levothyroxine. The dose was gradually increased to keep TSH within the normal reference range. Skeletal surveys performed after six months of levothyroxine treatment demonstrated resolved stippling and the height of the vertebral bodies, especially the thoracic vertebrae, increased.

Conclusion: The skeletal changes observed in hypothyroidism closely resemble and may be mistaken for the skeletal abnormalities characteristic of epiphyseal dysplasias. Although untreated congenital hypothyroidism is rare, it should be considered in the differential diagnosis of children with epiphyseal dysplasia. Treatment with thyroid hormone improves the epiphysis’s appearance and the vertebral bodies’ height in hypothyroid children.