Endocrine Abstracts

Cases of hyperthyroidism manifestation associated with previous secondary hypothyroidism are extremely rare. The article presents a rare clinical case of Graves’ disease manifestation in a patient with secondary hypothyroidism after radiosurgical treatment of acromegaly. A 38-year old woman with acromegaly and endo-supra-laterosellar pituitary adenoma had transsphenoidal non-radical surgery and subsequent radiosurgical treatment. After 2 years of radiation treatment, she ...

Thyroid dermopathy or pretibial myxedema (PTM) is a rare extrathyroidal manifestation of Graves’ disease with diverse presentations. Therefore, information on the clinical data of PTM patients is scarce. In this study, we aimed to evaluate the clinical features of patients with thyroid dermopathy and Graves’ disease. A total of 43 patients with pathologically confirmed PTM were retrospectively recruited. According to the diagnosis, the clinical data and laboratory fi...

We report a 53-year-old man. At age 3, the patient was diagnosed with chronic mucocutaneous candidiasis. At age 41 the patient started losing all hair on the body with total boldness. At age 43, he first complained of muscle weakness resulting in difficulty walking, back pain and difficulties holding his head in an upright position. At age 49, he was diagnosed with chronic primary adrenal insufficiency and hypoparathyroidism. Genetic analysis confirmed APS-1 (c.769C>T p.R2...

Introduction: Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by diabetes, hypogonadism, hypothyroidism, sensorineural hearing loss, alopecia totalis, extrapyramidal findings and specific changes on ECG. This syndrome belongs to a heterogeneous group of neurodegenerative disorders and is caused by mutations of the DCAF17 gene. Treatment is symptomatic and patients are managed by multidisciplinary teams. About 90 cases were reported since 20...

Objective: To analyze long-term treatment outcomes and to determine prognostic factors affecting the survival of patients with ECS. Matherials and methods: Retrospective, observational study on 147 patients (88 women, 59 men) with ECS diagnosed between 1990 and 2021. Various imaging studies were performed on all patients to find the source of ACTH producing neuroendocrine tumor (NET). Multivariable analysis was performed using a Cox proportional hazards ...