Congenital or Juvenile-Onset Hypothyroidism Presenting in Adulthood: A Case Series

Congenital or juvenile-onset hypothyroidism presenting in adulthood is rare but clinically important and may provide a unique opportunity to explore the effects of long-standing hypothyroidism from childhood. Here, we describe five such cases and analyze their unique features.

This retrospective study includes five cases of congenital (n = 2) or probable juvenile-onset (n = 3) primary hypothyroidism presenting in adulthood, identified at a tertiary healthcare center in South India. We noted the clinical manifestations, laboratory and radiological (roentgenograms and magnetic resonance imaging) investigations, and treatments offered from the record review.

All five patients (age: 18-34 years) exhibited severe short stature and impaired puberty. Four patients had myxedematous features, while one patient presented with a marasmic appearance. Bone maturity was delayed in all cases, with epiphyseal dysgenesis, metaphyseal sclerosis, persistent Wormian bones, flattened vertebrae, and pericardial effusion in one or more patients. Uncommon radiological observations included cortical thickening of long bones, dislocation of dysgenetic femoral head epiphyses, and extensive vascular calcification of superficial femoral arteries in one or more patients. One each exhibited pituitary hyperplasia, partial empty sella, enlarged pituitary with a concave superior margin and a normal-sized pituitary gland.

Alongside the well-known effects on growth, puberty, epiphyses, growth plates, and vertebrae, the cases highlight the unique impacts of long-standing pediatric-onset hypothyroidism on cortical thickness, vascular calcification and pituitary.