Endocrine Abstracts

Introduction: Pendred syndrome is a rare autosomal recessive disease and the classic triad is congenital sensorineural hearing impairment, goiter and impaired iodine organification with abnormal perchlorate discharge test, but hypothalamic tumors are not a feature of this syndrome.Case report: We report a case of a 32-year-old female with Pendred syndrome confirmed by genetic testing and perchlorate discharge test, with goiter, hypothyroidism treated wit...

Introduction: Liquid silicone is an inert material that as minimal local tissue reaction, but it is the systemic complications, such as silicone embolism and acute respiratory distress syndrome (ARDS) that carry the highest associated morbidity. Liquid silicone is frequently used for illegal cosmetic procedures in transsexual patients, and the most common injection sites are the hips, buttocks, face and breasts.We report a case of silicone embolism with ...

Background: Fungal infections are a rare cause of primary adrenal insufficiency, raising difficulties in the diagnostic and therapeutic approaches.Case report: A 56 years old diabetic male, who lived in Guinea in 1968, was referred to our inpatients clinic because of a 7,7x3 cm adrenal incidentaloma. He presented with hyperpigmentation, postural symptoms, weakness, fatigue, anorexia and weight loss.The rapid ACTH stimulation test h...

Background: The screening of patients and relatives for the presence of inactivating mutations of the MEN 1 gene, established quite accurately those for prospective detection of neoplasms. Active search for pancreatic lesions has increased the detection of neuroendocrine pancreatic tumours (NEPT) at early ages, most asymptomatic and with no signs of malignancy at diagnosis.Case Report: We describe one kindred where five members were identified as carrier...