Volume 16 (2017)

Removal of a high-fat diet, but not voluntary exercise, reverses obesity and diabetic-like symptoms in male C57BL/6J mice

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Aikaterini Hatzidis, Jasmin A. Hicks, Rachel R. Gelineau, Nicole L. Arruda, Isabella Monteiro De Pina, Karyn E. O’Connell, Joseph A. Seggio

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OBJECTIVE: Both the consumption of high-fat diets and exercise are known to produce alterations in metabolism and behavior. This study focuses on the effects of a change to a low-fat diet from a high-fat diet and voluntary exercise on obesity, type-2 diabetic-like symptoms, and locomotor behavior in male C57BL/6J mice. DESIGN: Mice were initially given either a high-fat diet or regular chow, along with a cage …

Diagnostic value of the water deprivation test in the polyuria-polydipsia syndrome

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Penelope Trimpou, Daniel S. Olsson, Olof Ehn, Oskar Ragnarsson

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OBJECTIVE: Diabetes insipidus (DI) and primary polydipsia (PP) are characterised by polyuria and polydipsia. It is crucial to differentiate between these two disorders since the treatment is different. The aim of this study was to evaluate the diagnostic value of the short and an extended variant of the water deprivation test (WDT) and of measuring urinary vasopressin (AVP) in patients with polyuria and polydipsia.
DESIGN: A retrospective, single-centre study based on WDTs performed …

Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?

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Anna Angelousi, Nikolaos Settas, Fabio R. Faucz, Charalampos Lyssikatos, Martha Quezado, Narjes Nasiri-Ansari, Constantine A. Stratakis, Eva Kassi

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Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor hereditary in 35% of cases. The most common syndromic form is in the context of the multiple endocrine neoplasia type 2 (MEN 2) syndromes in association with other tumors and due to germline RET mutations. We describe a 57-year-old female patient diagnosed with sporadic MTC …

Effects of a hops (Humulus lupulus L.) dry extract supplement on self-reported depression, anxiety and stress levels in apparently healthy young adults: a randomized, placebo-controlled, double-blind, crossover pilot study

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Ioannis Kyrou, Aimilia Christou, Demosthenes Panagiotakos, Charikleia Stefanaki, Katerina Skenderi, Konstantina Katsana, Constantine Tsigos

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OBJECTIVE: The Humulus lupulus L. plant (hops) is used as a herbal medicinal product for anxiety/mood disorders. Our aim was to study the effects of a hops dry extract on self-reported depression, anxiety and stress levels in young adults. DESIGN: Apparently healthy young adults from our university completed the Depression Anxiety Stress Scale-21 (DASS-21) and those reporting at least mild depression …

Pegvisomant-primed growth hormone (GH) stimulation test is useful in identifying true GH deficient children

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Giorgio Radetti, Heba H. Elsedfy, Randa Khalaf, Cristina Meazza, Sara Pagani, Mohamed El Kholy, Riccardo Albertini, Anna Maria De Stefano, Antonella Navarra, Annalisa De Silvestri, Mauro Bozzola

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OBJECTIVE: Provocative stimulation tests for growth hormone (GH) assessment have poor reproducibility and can often elicit false positive results in normal children. The aim of our study was to confirm the capability of pegvisomant as an enhancer of GH secretion in unmasking false-positive results in short children (height <-2.0 standard deviation score, SDS) undergoing GH testing ...

Association between TPO Asn698Thr and Thr725Pro gene polymorphisms and serum anti-TPO levels in Iranian patients with subclinical hypothyroidism

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Amirhosein Khoshi, Alireza Sirghani, Mehran Ghazisaeedi, Ali Zarei Mahmudabadi, Amir Azimian

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OBJECTIVE: Subclinical hypothyroidism (SCH) is defined as high levels of TSH in the presence of normal levels of serum FT4. Since thyroid peroxidase (TPO) plays a key role in thyroid hormone synthesis, variations in the TPO gene can change the enzyme structure and result in the production of anti-TPO antibodies. The aim of this study was to examine the relationship between the Asn698Thr (A2095C) and Thr725Pro (A2173C) polymorphisms of the TPO gene and anti-TPO levels in patients with SCH …

Sarcopenia: From definition to treatment

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Yannis Dionyssiotis, Athina Kapsokoulou, Eleni Samlidi, Antonios G. Angoules, Jannis Papathanasiou, Efstathios Chronopoulos, Ifigenia Kostoglou-Athanassiou, Georgios Trovas

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Over the last few decades, worldwide average life expectancy has grown significantly and therefore the percentage of the elderly has correspondingly increased. As a result, clinical medicine has focused much interest on the latter age group and their health problems. During the 20th century, the typical elderly patient was a person with an acute or chronic disease …

Serum fetuin-A levels are associated with serum triglycerides before and 6 months after bariatric surgery

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Christos G. Verras, Georgios A. Christou, Yannis V. Simos, George D. Ayiomamitis, Andreas J. Melidonis, Dimitrios N. Kiortsis

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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 …

Bioimpedance analysis vs. DEXA as a screening tool for osteosarcopenia in lean, overweight and obese Caucasian postmenopausal females

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Melpomeni Peppa, Charikleia Stefanaki, Athanasios Papaefstathiou, Dario Boschiero, George Dimitriadis, George P. Chrousos

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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 …

Somatotropinomas inadequately controlled with octreotide may over-respond to pasireotide: the importance of dose adjustment to achieve long-term biochemical control

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Ilan Shimon, Wolfgang Saeger, Luiz Eduardo Wildemberg, Monica R. Gadelha

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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 …

Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

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Teresa Rego, Carmen Gomez Lado, Paloma Cabanas Rodríguez, Francisco Sousa Santos, Francisco Barros Angueira, Lidia Castro-Feijóo, Jesús Barreiro Conde, Manuel Castro-Gago

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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 …

An insight into familial hypercholesterolemia in Greece: rationale and design of the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH)

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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

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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 …

Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke’s cleft cyst

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Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C. Han, Constantine A. Stratakis

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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 …

Identification of an AR mutation in Klinefelter syndrome during evaluation for penoscrotal hypospadias

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Sezer Acar, Hale Tuhan, Elçin Bora, Korcan Demir, Hüseyin Onay, Derya Erçal, Ece Böber, Ayhan Abacı

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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 …

Hypophysis. From outgrowth, to ocular disorder to pituitary gland

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Konstantinos Laios, George Androutsos, Maria Piagkou, Marilita M. Moschos

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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 …

The male bride: a story of Sexual Female-to-Male Transformation at marriage from the Hellenistic period, recorded by Phlegon of Tralles

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Konstantina Barouti, Georgios K. Markantes, Anastasia K. Armeni, Vasiliki Vasileiou, Neoklis A. Georgopoulos

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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” …

Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1

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Anna Papadopoulou, Evangelia Gole, Katerina Melachroinou, Theoni Trangas, Evaggelia Bountouvi, Anastasios Papadimitriou

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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 …

GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype

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Nicos Skordis, Eleana Ferrari, Aria Antoniadou, Leonidas A. Phylactou, Pavlos Fanis, Vassos Neocleous

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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 …

Hermaphroditism: an obsolete diagnosis?

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Anastasios Tranoulis, Lina Michala

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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 …

Malignant struma ovarii harboring a unique NRAS mutation: case report and review of the literature

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Carlo Gobitti, Alessandro Sindoni, Chiara Bampo, Tanja Baresic, Giorgio Giorda, Lara Alessandrini, Vincenzo Canzonieri, Giovanni Franchin, Eugenio Borsatti

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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 …

The Pineal Gland and its earliest physiological description

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Konstantinos Laios

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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 …

Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene

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Ayça Altincik, Fahri Karaca, Hüseyin Onay

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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 …

A case of idiopathic granulomatous hypophysitis

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Nilufer Ozdemir Kutbay, Mustafa Berker, Figen Soylemezoglu, Hatice Ozisik, Banu Sarer Yurekli

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Dear Sir, Hypophysitis is a rare disease of the pituitary gland whose incidence is 1 case per 9 million people per year. Hypophysitis, which can be categorized as primary (idiopathic) hypophysitis and secondary hypophysitis, may develop through systemic inflammatory disorders such as tuberculosis, Wegener’s granulomatosis and sarcoidosis. Based on histologic features …

Congenital nephrogenic diabetes insipidus in the Corpus Hippocraticum: The first description

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Gregory Tsoucalas, Marianna Karamanou

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Dear Editor, In congenital nephrogenic diabetes insipidus (cNDI), polyuria and polydipsia are present from birth, as the kidney is unable to concentrate urine despite elevated concentrations of the antidiuretic hormone arginine-vasopressin. In ancient Greek medicine, physiology was, needless, to say, an as yet fairly undeveloped specialty among medico-philosophers …

Menophila: a poetic description of genital ambiguity in Hellenistic literature

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Anastasia K. Armeni, Danai Georgakopoulou, Georgios K. Markantes, Konstantina Barouti, Leonidas Liarakos, Vasiliki Vasileiou, Neoklis A. Georgopoulos

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In Ancient Greece, up to the Classical era, hermaphrodites were regarded as “monstrous” beings, messengers of evil or a sign of divine anger. They were consequently socially marginalized, being treated cruelly or even put to death …