Volume 15 (2016)

A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity

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Vassos Neocleous, Christos Shammas, Marie M. Phelan, Pavlos Fanis, Maria Pantelidou, Nicos Skordis, Christos Mantzoros, Leonidas A. Phylactou, Meropi Toumba

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OBJECTIVE: Heterozygous mutations on the melanocortin-4-receptor gene (MC4R) are the most frequent cause of monogenic obesity. We describe a novel MC4R deletion in a girl with severe early onset obesity, tall stature, pale skin and red hair. CASE REPORT: Clinical and hormonal parameters were evaluated in a girl born full-term by non-consanguineous parents …

Progesterone pretreatment increases the stress response to social isolation in ewes

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Aline Freitas-de-Melo, Juan Pablo Damián, Maria José Hötzel, Georgget Banchero, Rodolfo Ungerfeld

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OBJECTIVE: In rodents, progesterone (P4) pretreatment increases anxiety and response to stressors. Social isolation is a stressor that generates physiological and behavioural stress responses in sheep. The aim of the study was to compare the stress response of anoestrous ewes previously treated or not with P4 to the social isolation test. DESIGN: Ten ewes received P4 treatment during 13 d (group P4-W) and another 10 remained untreated as controls (group Con) …

Pasireotide for malignant insulinoma

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Amit Tirosh, Salomon M. Stemmer, Evgeny Solomonov, Eldad Elnekave, Wolfgang Saeger, Yelena Ravkin, Kobi Nir, Yeela Talmor, Ilan Shimon

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Malignant insulinoma usually has a poor prognosis, as no efficient medical treatment is available. The somatostatin analogs octreotide and lanreotide have limited ability to control the hypoglycemic events. Pasireotide is a multi-receptor targeted somatostatin-analog with improved affinity for SSTR5. There is to date no reported treatment experience with this drug in such tumors …

Cabergoline treatment for recurrent Cushing’s disease during pregnancy

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Afif Nakhleh, Leonard Saiegh, Maria Reut, Mohammad Sheikh Ahmad, Irit Wirsansky Pearl, Carmela Shechner

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OBJECTIVE: Cushing`s disease during pregnancy is associated with an increased risk for maternal and fetal complications. In recurrent Cushing`s disease following transsphenoidal surgery, and when re-operation is not feasible, medical treatment is usually considered. Cabergoline was found to be effective in reducing hypercortisolism in Cushing’s disease …

Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency

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Vasiliki Koika, Anastasia K. Armeni, Neoklis A. Georgopoulos

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CASE PRESENTATION: A 36-year old man, operated on for cryptorchidism at the age of 8 years, was referred to the Outpatient Clinic of Reproductive Endocrinology for investigation of infertility. Clinical examination revealed ambiguous genitalia: penis 4-5 cm, testicular volume 2-3 ml, hypospadias, hypertrophic foreskin and scrotum bifida. Mild hypertension was confirmed. No skeletal malformations were detected …

Cyclopes and Giants: From Homer’s Odyssey to contemporary genetic diagnosis

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Georgios K. Markantes, Anastasia Theodoropoulou, Anastasia K. Armeni, Vasiliki Vasileiou, Constantine A. Stratakis, Neoklis A. Georgopoulos

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Giant is a term used to describe a legendary humanlike being of great stature and strength. In Greek mythology, the giants Cyclopes rebelled against the Olympian Gods in a battle that ended in their final defeat, this resulting in Olympian sovereignty on earth …

Thyrotoxic hypokalemic periodic paralysis in a Turkish patient presenting with a U wave on ECG

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Emre Gezer, Banu Şarer Yurekli, Gokçen Unal Kocabas

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Hypokalemic periodic paralysis (HPP) is a rare neuromuscular disorder caused by dysfunction of the ion channels in red muscle cells and which is characterized by painless episodes of muscle weakness generally after strenuous exertion or a high-carbohydrate meal …

Adrenal malignant melanoma masquerading as a pheochromocytoma in a patient with a history of a multifocal papillary and medullary thyroid carcinoma

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Maria E. Barmpari, Christos Savvidis, Anastasia D. Dede, Haridimos Markogiannakis, Christina Dikoglou, Paraskevi Xekouki, Constantine A. Stratakis, Andreas Manouras, Sofia Malaktari-Skarantavou

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Objective: Adrenal masses usually represent benign and nonfunctional adrenal adenomas; however, primary or metastatic malignancy should also be considered. Discovery of an adrenal mass needs further evaluation in order to exclude malignancy and hormonal secretion. We present a rare case of a possibly primary adrenal malignant melanoma with imaging and biochemical features of a pheochromocytoma. Case report: A 61-year-old male farmer was referred for evaluation …

Prevalence and determinants of type 2 diabetes mellitus in a Greek adult population

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Sofia Tsirona, Fotis Katsaros, Alexandra Bargiota, Stergios A. Polyzos, George Arapoglou, George N. Koukoulis

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The prevalence of diabetes mellitus (DM) is increasing worldwide reaching epidemic proportions. The aim of the present study was to estimate the prevalence of DM in Thessaly, a large region of Central Greece, and to extrapolate our results to the population of the entire country. A random sample of 805 adults (421 females and 384 men) living in Thessaly, aged 18-80 years, was surveyed. After completing a questionnaire about health status and a thorough physical examination …

A complicated case of primary hypophysitis with bilateral intracavernous carotid artery occlusion

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Pinelopi Katsiveli, Maria Sfakiotaki, Nikolaos Voulgaris, Labrini Papanastasiou, Theodora Kounadi, Konstantinos Lymperopoulos, George Piaditis

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Primary hypophysitis (PH) is a rare clinical entity characterized by inflammatory infiltration of the pituitary gland with various degrees of pituitary dysfunction. OBJECTIVE: To present a complicated case of aggressive PH with bilateral cavernous sinuses infiltration, successfully treated with azathioprine after failure of corticosteroid treatment. METHODS AND RESULTS: A 48-year-old woman presented with episodes of recurrent headache …

A case of dyskeratosis congenita associated with hypothyroidism and hypogonadism

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Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Zehra Erdemir, Emin Karaca, Idil Unal, Banu Yaman, Ferda Ozkinay, Fusun Saygili

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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 …

The relationship between retinol-binding protein 4 and apolipoprotein B-containing lipoproteins is attenuated in patients with very high serum triglycerides: A pilot study

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Georgios A. Christou, Constantinos C. Tellis, Moses S. Elisaf, Alexandros D. Tselepis, Dimitrios N. Kiortsis

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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 …

Clinical and biochemical responses after Gamma Knife surgery for a dopamine-secreting paraganglioma: case report

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Constantin Tuleasca, Yves Jaquet, Valerie Schweizer, Laura Negretti, Vera Magaddino, Philippe Maeder, Karim-Alexandre Abid, Benoit Lhermitte, Eric Grouzmann, Marc Levivier

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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 …

A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis

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Banu Sarer Yurekli, Nilufer Ozdemir Kutbay, Huseyin Onay, Ilgin Yildirim Simsir, Gokcen Unal Kocabas, Mehmet Erdogan, Sevki Cetinkalp, Gokhan Ozgen, Fusun Saygili

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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 …

A case of multiple immune toxicities from Ipilimumab and pembrolizumab treatment

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Malik Asif Humayun, Ruth Poole

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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 …

Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype

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Nikolaos Perakakis, Felix Flohr, Gian Kayser, Oliver Thomusch, Lydia Parsons, Franck Billmann, Ernst von Dobschuetz, Susanne Rondot, Jochen Seufert, Katharina Laubner

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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 …

Intractable hypoglycaemia in a patient with advanced carcinoid syndrome successfully treated with hepatic embolization

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Angelos Kyriacou, Was Mansoor, Jeremy Lawrance, Peter J. Trainer

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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 …

TSH-secreting pituitary adenomas treated by gamma knife radiosurgery: our case experience and a review of the literature

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Zadalla Mouslech, Maria Somali, Anastasia Konstantina Sakali, Christos Savopoulos, George Mastorakos, Apostolos I. Hatzitolios

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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 …

Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures

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Labrini Papanastasiou, Stelios Fountoulakis, Nikos Voulgaris, Theodora Kounadi, Theodosia Choreftaki, Akrivi Kostopoulou, George Zografos, Charalampos Lyssikatos, Constantine A. Stratakis, George Piaditis

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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 …

Landmarks in the history of adrenal surgery

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Marios Papadakis, Andreas Manios, Georgios Schoretsanitis, Constantinos Trompoukis

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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 …

Does ambient light at night reduce total melatonin production?

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Christopher C.M. Kyba, Thomas Kantermann

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It was with great interest that we read the recent study by Hersh et al. on the effects of sleep and light at night on melatonin in adolescents. Of particular interest was their focus on electronic use after “lights out”. The authors highlight the importance of understanding what effects this may have on sleep, citing a survey that showed that 72% of American 13-18 year olds regularly use a cellphone or computer before trying to go to sleep …

Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1

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Emanuele Bartolini, Stefano Stagi, Perla Scalini, Andrea Bianchi, Antonio Ciccarone, Mario Mascalchi

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In neurofibromatosis type 1 (NF1), Central Precocious Puberty (CPP) occurs almost invariably in association with optic pathway tumors, usually pilocytic astrocytoma. However, at times the aetiology remains. On the other hand, in the general population CPP develops due to an underlying hypothalamic hamartoma in up to 10% of patients. To the best of our knowledge, CPP due to hypothalamic hamartomas in NF1 has been reported only once in the literature …

Diversity in endocrinology practice: the case of Ramadan

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Ioannis Ilias, Luai Said Tayeh, Isidoros Pachoundakis

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There is today an imperative need to raise health workers’ awareness of contemporary cultural diversity and different beliefs, values and attitudes concerning health and disease in order to provide culturally appropriate and professionally competent care. Muslims currently account for 1%-10% of the population in Western Europe …