Wan-Ting Tsai, Yen-Lin Chen, Wei-Shiung Yang, Hong-Da Lin, Chih-Cheng Chien, Ching-Ling Lin
Reports associating hypokalemic rhabdomyolysis with primary aldosteronism are rare. Hypokalemia does not develop in every patient with primary aldosteronism, and hypokalemic rhabdomyolysis is even rarer in patients with primary aldosteronism …
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 …
Ilan Shimon, Wolfgang Saeger, Luiz Eduardo Wildemberg, Monica R. Gadelha
OBJECTIVE: To present two female patients with acromegaly inadequately controlled with long-acting octreotide who were subsequently treated with the multireceptor-targeted somatostatin analogue pasireotide that over-suppressed IGF-1 levels. METHODS: We report two patients who failed surgery and received long-acting octreotide 20-30 mg/month as part of two double-blind, Phase III clinical trials. After 6-12 months of octreotide treatment, both patients remained inadequately controlled and were switched …
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 …
Melpomeni Peppa, Charikleia Stefanaki, Athanasios Papaefstathiou, Dario Boschiero, George Dimitriadis, George P. Chrousos
BACKGROUND-OBJECTIVES: We aimed at evaluating the efficiency of a newly developed, advanced Bioimpedance Analysis (BIA-ACC®) device as a screening tool for determining the degree of obesity and osteosarcopenia in postmenopausal women with normal or decreased bone density determined by Dual-Energy X-Ray absorptiometry (DEXA) in a representative sample of Greek postmenopausal women …
Christos G. Verras, Georgios A. Christou, Yannis V. Simos, George D. Ayiomamitis, Andreas J. Melidonis, Dimitrios N. Kiortsis
OBJECTIVE: The elucidation of the changes of fetuin-A in the context of bariatric surgery. DESIGN: Twenty obese patients (8 males, 12 females; body mass index = 42.5±3.4 kg/m2) were studied at baseline and 6 months after bariatric surgery. RESULTS: Serum fetuin-A levels did not differ with regard to the presence …
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 …
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 …
Christos V. Rizos, Vasilios Athyros, Eleni Bilianou, George Chrousos, Anastasia Garoufi, Genovefa Kolovou, Vasilios Kotsis, Loukianos Rallidis, Emmanouel Skalidis, Ioannis Skoumas, Konstantinos Tziomalos, Evangelos N. Liberopoulos
Familial hypercholesterolemia (FH) is the most common metabolic genetic disorder. It is estimated that around 13 million people worldwide have FH. At the same time, only 25% of FH patients have been diagnosed. Moreover, these patients are often undertreated. The true prevalence of FH in Greece is unknown, but it is estimated that there are at least 40,000 FH patients nationwide …
Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C. Han, Constantine A. Stratakis
BACKGROUND: Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke’s cleft cyst (RCC) is a remnant of Rathke’s pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. METHODS/RESULTS: The patient was diagnosed with tetrasomy X by karyotyping during infancy …
Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia …
Sezer Acar, Hale Tuhan, Elçin Bora, Korcan Demir, Hüseyin Onay, Derya Erçal, Ece Böber, Ayhan Abacı
Genital anomalies, ranging from female genitalia to milder degrees of undervirilization, are rarely reported in Klinefelter syndrome, in which a male is classically expected to be born with male external genitalia. Though androgen insensitivity syndrome (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype …
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 …
Konstantinos Laios, George Androutsos, Maria Piagkou, Marilita M. Moschos
In ancient Greek the term ὑπόφυσις meant literally something growing from below, the word being composed of the two elements hypo (Greek: ὑπό, below) and phyomai (φύομαι, grow). In ancient Greek medical literature we find this term with various meanings …
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 …
Konstantina Barouti, Georgios K. Markantes, Anastasia K. Armeni, Vasiliki Vasileiou, Neoklis A. Georgopoulos
Phlegon of Tralles was a Greek historian and writer, born in Tralles, a city of Lydia in Asia Minor. He was a freedman of the emperor Hadrian, who lived in the 2nd century AD. Besides his magnum opus, “The Olympiads”, among other writings of which only fragments have survived to date, he also produced a compilation of marvelous and abnormal natural or human phenomena presented as paradoxical stories in his collection called “Book of Marvels” …
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 …
Anna Papadopoulou, Evangelia Gole, Katerina Melachroinou, Theoni Trangas, Evaggelia Bountouvi, Anastasios Papadimitriou
OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is a rare familial or sporadic syndrome associated with activating mutations in the calcium sensing receptor (CaSR) gene. The aim of this study was to assess the functional significance of a novel CaSR mutation and, moreover, to present the clinical characteristics and the bone mineral density (BMD) progression from early childhood to late puberty in a patient with …
Nicos Skordis, Eleana Ferrari, Aria Antoniadou, Leonidas A. Phylactou, Pavlos Fanis, Vassos Neocleous
This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and was finally diagnosed with GnRH dependent precocious puberty with no evidence of underlying central nervous system pathology. Molecular testing did not identify any genetic defect in any of the genes tested …
Anastasios Tranoulis, Lina Michala
Our aim was to assess to what extent the traditional term ‘hermaphrodite’ is still in use to describe ‘disorders of sex development’ (DSD) as per the terminology recommended by the 2006 Chicago Consensus Statement. For this purpose we systematically searched Pubmed and Scopus using the keywords hermaphroditism, hermaphrodite, pseudohermaphrodite, pseudohermaphroditism and intersex in the title and abstract …
Carlo Gobitti, Alessandro Sindoni, Chiara Bampo, Tanja Baresic, Giorgio Giorda, Lara Alessandrini, Vincenzo Canzonieri, Giovanni Franchin, Eugenio Borsatti
Struma ovarii (SO), a rare tumor containing at least 50% of thyroid tissue, represents approximately 5% of all ovarian teratomas; its malignant transformation rate is reported to occur in up to 10% of cases and metastases occur in about 5-6% of them. We describe a 36-year old woman who underwent laparoscopic left annessectomy two years earlier because of an ovarian cyst. Follow-up imaging revealed a right adnexal mass, ascitis and peritoneal nodes that were diagnosed as comprising a malignant …
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 …
Ayça Altincik, Fahri Karaca, Hüseyin Onay
BACKGROUND AND OBJECTIVE: Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene …
Konstantinos Laios
Dear Editor, The earliest physiological description of the Pineal (Latin: pinea = pinecone) Gland (also occasionally “conarium”, from the Greek: κωνάριο = κώνος = cone, pinecone) is found in two medical works written by Galen (2nd c. AD) (Figure 1). These works contain its anatomical description …
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 …