Endocrine Abstracts

Introduction: Werner syndrome is a rare genetic disease affecting the WRN gene, of autosomal recessive inheritance.

Case-presentation: We report the case of a 34-year-old patient who presented with erectile dysfunction and asthenia. His brother underwent surgery for meningioma. He was also diagnosed with hypogonadism, suffered from bilateral cataract and diabetes, and died following acute Leukemia at the age of 35 years. Our patient is from a second-degree consanguineous marriage, he has a low intelligence quotient, a bilateral cataract for which he underwent surgery, a growth retardation secondary to a GH deficiency, peripheral hypothyroidism, and diabetes treated with metformin. On examination, he had a hoarse voice, short stature, facial dysmorphia with triangular bird’s head face and spread ears, flat feet, and canities. He had hypopigmented areas on the limbs with scleroderma of the skin without melanoderma. Both testicles were in place with a pubertal stage estimated at G3P3 according to Tanner scale. He did not have gynecomastia or micropenis. Hairiness was rare. On biology, he had an HBA1C at 7.2%, hypertriglyceridemia at 6.47 mmol/l, TSH at 2.7 mUI/l, low baseline cortisol level at 32 ng/ml, ACTH at 50 pg/ml, FSH at 1.3 mUI/l, LH at 5.3 mUI/l, Testosteronemia was low at 0.7 ng/ml and Prolactinemia at 150 μUI/l. The hypothalamic–pituitary MRI was normal. A genetic study revealed a mutation of the WRN gene confirming Werner syndrome. The patient was treated by substitution therapy with Hydrocotrtisone and Testosterone Enanthate along with with dietary rules and Fenofibrate. During follow-up, the patient was diagnosed with a locally advanced nasopharyngeal carcinoma. The patient died as a result of complications related to radiotherapy.

Discussion: Werner syndrome usually begins in adolescence with a peak at age 30. It is responsible for premature aging and affects almost all functions, especially endocrine ones. The latter is manifested essentially by hypothyroidism, hypopituitarism, and hypogonadism. Hypothyroidism is generally peripheral due to atrophy of the thyroid gland, but central hypothyroidism remains possible. Hypogonadism is essentially a hypergonadotropic hypogonadism due to premature atrophy of the reproductive organs. Hypogonadotropic hypogonadism may be found more rarely, probably in relation with hypopituitarism. Diabetes observed in this syndrome is due to insulin resistance and decreased insulin secretion. The prognosis is linked to the occurrence of early and aggressive cancers.