Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Zehra Erdemir, Emin Karaca, Idil Unal, Banu Yaman, Ferda Ozkinay, Fusun Saygili
Dyskeratosis congenita is a very rare multisystemic disorder and it can be accompanied by different endocrinological pathologies. We would like to draw attention to this rare disease by reporting a case diagnosed as dyskeratosis congenita. More specifically, a 30-year-old male patient was referred with the findings of micropenis and atrophic testicles …
Georgios A. Christou, Constantinos C. Tellis, Moses S. Elisaf, Alexandros D. Tselepis, Dimitrios N. Kiortsis
OBJECTIVE: The investigation of the association between retinol-binding protein 4 (RBP4)and lipoproteins in subjects with hypertriglyceridemia. DESIGN: Forty-six obese or overweight hypertriglyceridemic patients were studied at baseline and 20 of them underwent a hypocaloric low-fat diet for 3 months …
Constantin Tuleasca, Yves Jaquet, Valerie Schweizer, Laura Negretti, Vera Magaddino, Philippe Maeder, Karim-Alexandre Abid, Benoit Lhermitte, Eric Grouzmann, Marc Levivier
INTRODUCTION: The efficacy of Gamma Knife surgery (GKS) in local tumor control of non-secreting paragangliomas (PGLs) has been fully described by previous studies. However, with regard to secreting PGL, only one previous case report exists advocating its efficacy at a biological level. CASE REPORT: The aims of this study were: 1) to evaluate the safety/efficacy of GKS in a dopamine-secreting …
Banu Sarer Yurekli, Nilufer Ozdemir Kutbay, Huseyin Onay, Ilgin Yildirim Simsir, Gokcen Unal Kocabas, Mehmet Erdogan, Sevki Cetinkalp, Gokhan Ozgen, Fusun Saygili
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by the loss of one of five steroidogenic enzymes affecting cortisol synthesis. Deficiency of 21-hydroxylase is the most common cause of CAH, accounting for more than 90% of all cases; it is followed in frequency by 11β-hydroxylase deficiency (11βOHD), reported to be between 3% and 5% of cases …
Malik Asif Humayun, Ruth Poole
Monoclonal antibodies have revolutionized the management of complex and challenging human diseases such as malignancies as well as haematological, rheumatologic and other autoimmune conditions over the last three decades. At the same time, they are associated with a significant degree of immune-mediated disorders, and endocrinopathies are no exception …
Nikolaos Perakakis, Felix Flohr, Gian Kayser, Oliver Thomusch, Lydia Parsons, Franck Billmann, Ernst von Dobschuetz, Susanne Rondot, Jochen Seufert, Katharina Laubner
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant hereditary disorder associated with the development of endocrine tumors due to reduced expression of the tumor suppressor protein menin. Recent studies indicate a general role of menin in carcinogenesis, affecting the prevalence and clinical course of common non-endocrine tumors such as breast cancer, hepatocellular carcinoma and melanoma. Here we report a new germline missense mutation …
Angelos Kyriacou, Was Mansoor, Jeremy Lawrance, Peter J. Trainer
A male patient presented at the age of 54 years with metastatic pancreatic neuroendocrine tumour (NET). He was managed with interferon and multiple courses of MIBG therapy which controlled his disease for about seven years. He then developed symptomatic hypoglycaemia which resolved with the introduction of somatostatin analogue treatment and further therapeutic MIBG. However, three years later he was admitted to hospital with severe and intractable hypoglycaemia …
Zadalla Mouslech, Maria Somali, Anastasia Konstantina Sakali, Christos Savopoulos, George Mastorakos, Apostolos I. Hatzitolios
A 43-year-old woman, previously misdiagnosed as having primary hyperthyroidism and treated with antithyroid drugs, presented to us with overt hyperthyroidism, high levels of thyroid hormones and elevated thyroid-stimulating hormone (TSH). Μagnetic resonance imaging (MRI) revealed a pituitary microadenoma extending suprasellarly. The patient responded favorably to initial treatment with somatostatin analogs for 2 years but due to the escape phenomenon, TSH levels escalated and hyperthyroidism relapsed …
Labrini Papanastasiou, Stelios Fountoulakis, Nikos Voulgaris, Theodora Kounadi, Theodosia Choreftaki, Akrivi Kostopoulou, George Zografos, Charalampos Lyssikatos, Constantine A. Stratakis, George Piaditis
OBJECTIVE: Carney complex (CNC) is a rare autosomal dominant multiple neoplasia syndrome characterized by the presence of endocrine and non-endocrine tumors. More than 125 different germline mutations of the protein Kinase A type 1-α regulatory subunit (PRKAR1A) gene have been reported. We present a novel PRKAR1A gene germline mutation in a patient with severe osteoporosis and recurrent vertebral fractures. DESIGN: Clinical case report …
Marios Papadakis, Andreas Manios, Georgios Schoretsanitis, Constantinos Trompoukis
The last 100 years have seen a revolution in the understanding of adrenal disease and its surgical treatment. The isolation of its hormones, the detailed study of the adrenal medulla and the cortex together with the enormous expansion of surgical methods served as catalysts to this revolution. The Greek word for adrenal (epinephridio, from the Greek epi, upon, and nephros, kidney) dates back to the age of Homer who mentions the adrenal glands …