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Annales d'endocrinologie · 2003

[Werner's syndrome and endocrine disorders].

Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Zantour B, Messaoud R, Zouali M, Ladjimi A, Braham H, Hamza H, Zebidi A, Sfar M H

Аннотация

Werner's syndrome is a rare autosomal recessive disease caused by the mutation of DNA helicase gene (WRN), characterized by the premature onset of multiple age-related disorders and skin changes similar to those observed in scleroderma. Some endocrinologic and metabolic disorders have been described in patients with Werner's syndrome. We report one case in a 41-year-old man issuing from consanguineous parents, who presented for exploration of hypoglycemic episodes and sexual impotence. Werner's syndrome was diagnosed on the basis of his characteristic clinical appearance. Metabolic disorders were insulin-requiring diabetes and hypertriglyceridemia. Endocrinologic investigation revealed nodular goiter, sub clinical primary hypothyroidism, hypergonadotrophic hypogonadism,adrenal cortical hypofunction and GH deficiency. Pathology examination of the skin biopsy showed a scleroderma-like aspect. Finally, osteoporosis, atherosclerosis and sub-capsular cataract were associated. Thus, in Werner's syndrome metabolic and endocrinologic investigation is necessary in order to treat these disorders and improve the patient's prognosis and life.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты