Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report

October 2020 in “ Endocrine journal ”

Huan Li, Ming Yang, Hong Shen, Sisi Wang, Hao Cai

hair loss skin changes Werner syndrome WRN gene nonsense mutation frameshift mutation endocrine-metabolic manifestations diabetes mellitus thyroid dysfunction hyperlipidemia

TLDR A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.

A 40-year-old female with symptoms including short stature, bird-like facies, premature graying and hair loss, skin changes, and non-healing foot ulcers was diagnosed with Werner syndrome (WS), a condition that mimics accelerated aging and leads to various age-related diseases. The patient also had a history of delayed puberty, abortion, hypertriglyceridemia, and juvenile cataracts. Genetic testing confirmed WS through the identification of two mutations in the WRN gene: a common nonsense mutation (c.1105C>T:p.R369Ter) and an unreported frameshift mutation (c.1134delA:p.E379KfsTer5). The case highlights the diverse endocrine-metabolic manifestations of WS, such as diabetes mellitus, thyroid dysfunction, and hyperlipidemia, emphasizing the importance of early recognition and management of the syndrome by healthcare professionals.

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