Atypical presentations of primary acquired hypothyroidism - a case series

Primary acquired hypothyroidism in children manifests with a myriad of clinical presentations. Clinical features can be insidious in nature, often under the guise of non-specific presentations to other subspecialties prior to referral to the endocrinologist. Growth failure is a hallmark feature in these children alongside their presenting clinical symptomology which needs to be identified through detailed history, physical examination and analysis of the growth charts. In this case series, we discuss 5 atypical presentations of acquired primary hypothyroidism with multisystemic involvement, including musculoskeletal, hepatobiliary, gynaecological and haematological manifestations. This is of importance as untreated hypothyroidism leads to fatigue, decreased physical activity, suboptimal height gain, disordered puberty and poor neurocognitive development in children with long term detrimental outcomes.

Automated summary

Primary acquired hypothyroidism in children can manifest with various clinical symptoms, with growth failure being a significant feature. This case series discusses 5 atypical presentations of hypothyroidism, involving multiple systems. Untreated hypothyroidism can have long-term detrimental effects on children.