Two male patients with scleroderma and hypogonadism are described. One patient had Klinefelter's syndrome. The second had normal testosterone but elevated gonadotrophins. Possible relationships between scleroderma and hypogonadism are discussed.
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J Scleroderma Relat Disord
October 2022
Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
Background: Systemic sclerosis may affect male and female fertility. Premature ovarian failure has been reported in female systemic sclerosis patients, but the effects on male fertility in systemic sclerosis have not been studied.
Objectives: We aimed to determine the prevalence and clinical associations with primary hypogonadism among male systemic sclerosis patients.
Case Rep Genet
February 2019
Human Genetics Institute, School of Medicine, Pontifical Xavierian University, Bogotá, Colombia.
Werner's syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and "bird-like" facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics.
View Article and Find Full Text PDFExp Clin Transplant
October 2019
From the Cornea, Refractive Surgery, Ocular Surface Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Here, we present, to the best of our knowledge, the first case of Werner syndrome with corneal blindness due to bilateral primary bullous keratopathy. Werner syndrome is a rare autosomal recessive disorder characterized by features of premature aging, insulin-dependent diabetes mellitus, osteoporosis, atherosclerosis, hypergonadotrophic hypogonadism, hypertriglyceridemia, scleroderma-like skin changes, and sarcomas. Among ocular manifestations, cataracts, cystoid macular edema, and retinal detachment have been reported.
View Article and Find Full Text PDFAn Bras Dermatol
October 2017
School of Medicine, Selcuk University - Konya, Turkey.
Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolescence but it is usually diagnosed in the third or fourth decade of life.
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