Endocrine Abstracts

JOINT1270

Introduction: Werner syndrome (WS), also known as adult progeroid syndrome, is a rare autosomal recessive disorder caused by a mutation in the WRN gene. It manifests as premature aging. Major clinical features include: Cutaneous aging characterized by thin, atrophic skin with chronic ulcerations, and early graying of hair and bilateral cataracts, often presenting at a young age. These manifestations are frequently associated with additional complications, such as type 2 diabetes mellitus (DM), hypogonadism, early-onset osteoporosis, premature atherosclerosis, and an increased risk of developing neoplasms (1).

Case presentation: We report the case of a 40-year-old male followed for type 2 DM and hypogonadism, which ultimately led to the diagnosis of WS, with a history of peripheral hypogonadism, diagnosed due to primary infertility, testicular hypotrophy on ultrasound and low testosterone levels. The patient has a history of surgery for bilateral cataracts at the age of 33. On examination, he exhibited a characteristic facial appearance, including a thin face with atrophic cheeks and a pointed nose, but without cutaneous ulcerations. He has gray hair since the age of 34. Given the association of these signs, we suspected WS despite the absence of a family history of premature aging and proceeded with genetic testing for the WRN gene mutation.

Discussion and Conclusion: Werner syndrome is associated with premature aging during the early third decade of life, and can be firstly recognized by a lack of growth spurt during adolescence leading to short stature in adulthood. Aging-related disorders like DM, osteoporosis, peripheral hypogonadism, atherosclerosis, and malignancies like thyroid carcinomas and melanomas, are common. Deep skin ulcers around Achilles tendons and elbows are rarer but pathognomonic. Hypogonadism is secondary to testicular atrophy. Treatment should be tailored to each patient's needs, with potential therapies including hormone replacement for hypogonadism and appropriate management of diabetes. Early diagnosis and multidisciplinary care are crucial to improving the quality of life and preventing further complications in these patients. The main cause of premature mortality in these patients are myocardial infarction and cancer (2). (1) He et al. Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review. Endocrine Journal. 2019, 66 (11), 961-969 (2) Ageing Res Rev. 2017 January; 33: 105–114. doi:10.1016/j.arr.2016.03.002.