Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient

Silvano Bertelloni, Eleonora Dati, Angelo Valetto, Veronica Bertini, Alfredo Danti, Giampiero I. Baroncelli

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BACKGROUND: Mixed gonadal dysgenesis (MGD) is a rare disorder. Short stature is a well known feature of this condition. Although growth hormone (GH) treatment has been suggested to treat growth impairment, conflicting data surround this issue …

Post-surgery severe hypocalcemia in primary hyperparathyroidism preoperatively treated with zoledronic acid

Salvatore Maria Corsello, Rosa Maria Paragliola, Pietro Locantore, Francesca Ingraudo, Maria Pia Ricciato, Carlo Antonio Rota, Paola Senes, Alfredo Pontecorvi

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Zoledronic acid is a newly FDA-approved bisphosphonate for the treatment of hypercalcemia of malignancy. Although the safety and efficacy of this drug in treating hypercalcemia associated with hyperparathyroidism have not yet been established in clinically controlled trials, its off-label use is not uncommon …

Olfactory dysfunction in children with Kallmann syndrome: relation of smell tests with brain magnetic resonance imaging

Ahmet Anık, Gönül Çatlı, Ayhan Abacı, Handan Güleryüz, Çağdaş Güdücü, Adile Öniz, Şule Can, Bumin Dündar, Ece Böber

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OBJECTIVE: Kallmann syndrome (KS) is a genetic disorder with the distinctive features of hyposmia or anosmia and hypogonadotropic hypogonadism. Though hyposmia/anosmia can be evaluated by both objective and subjective smell tests, there is no study comparing these two methods in KS …

Tracing the origin of the term “gene”

Theano D. Kontopoulou, Spyros G. Marketos

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A century has passed (1902 – 2002) since the Danish botanist and geneticist Wilhelm Ludwig Johannsen established the scientific term “gene”. The centenary of this biological term coincides with the 50th anniversary of the unraveling of the structure of DNA, the basic molecule of heredity …

Seasonal variation of type 1 diabetes mellitus diagnosis in Greek children

Maria I. Kalliora, Andriani Vazeou, Dimitrios Delis, Evangelos Bozas, Ioanna Thymelli, Christos S. Bartsocas

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OBJECTIVE: The aim of the study was to investigate the seasonal variation of type 1 diabetes mellitus (T1DM) diagnosis in Greek children. DESIGN: The study group consisted of 1148 patients (604 males and 544 females) who were diagnosed with T1DM during the period 1978-2008. The mean age at diagnosis was 8.32±5.01 years …

Prevalence of overweight and obesity in preschool children in Thessaloniki, Greece

Maria Hassapidou, Efstratia Daskalou, Fotini Tsofliou, Konstantinos Tziomalos, Anastasia Paschaleri, Ioannis Pagkalos, Themistoklis Tzotzas

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OBJECTIVE: Data on obesity in preschoolers are scarce in Greece, a country particularly affected by the obesity epidemic. The present study aimed to assess overweight and obesity prevalence of preschoolers in Thessaloniki, Greece, by using three different standards for defining childhood overweight and obesity …

Estradiol and progesterone supplementation during luteal phase improved the receptivity of the endometrium in a patient with a history of diethylstilboestrol exposure in-utero

Dimitris Loutradis, Konstantinos Stefanidis, Erasmia Kiapekou, Evangelia Zapanti, Chrisoula Panitsa-Faflia, Aristidis Antsaklis

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BACKGROUND: Diethylstilboestrol (DES) exposure in-utero has been shown to have negative effects on pregnancy. DES-exposed women are at increased risk of early spontaneous pregnancy loss, ectopic gestation and infertility. DESIGN: A 34-year old woman with a 6-year history of primary infertility is presented. The patient underwent in vitro fertilization (IVF) treatment without success…

Insulin-mediated “pseudoacromegaly”

Amir H. Sam, Tricia Tan, Karim Meeran

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Patients with acromegaly have characteristic clinical features caused by soft tissue overgrowth. The most common cause of acromegaly is a growth hormone-secreting adenoma of the anterior pituitary. Both somatic and metabolic features of acromegaly are due to excess growth hormone (GH) secretion and high serum concentrations …

Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature

Costas Koufaris, Angelos Alexandrou, Carolina Sismani, Nicos Skordis

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Familial neurohypophyseal diabetes insipidus (FNDI) is a disorder characterized by excess excretion of diluted urine (polyuria) and increased uptake of fluids (polydipsia). The disorder is caused by mutations affecting the AVP-NPII gene, resulting in absent or deficient secretion of the antidiuretic hormone arginine vasopressin …

Iodine 131 treatment for differentiated thyroid carcinoma in patients with end stage renal failure: dosimetric, radiation safety, and practical considerations

Caliope Alevizaki, Michael Molfetas, Alexandros Samartzis, Barbara Vlassopoulou, Charalambos Vassilopoulos, Phoedi Rondogianni, Sofia Kottou, Valsamis Hadjiconstantinou, Maria Alevizaki

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BACKGROUND: Iodine 131 ablation following total thyroidectomy is considered an indispensable element of successful treatment of differentiated thyroid carcinoma (Dtc). because of the essential role of the kidneys in iodine clearance, 131I therapy of Dtc in patients with end stage renal disease, particularly those maintained on haemodialysis …

Obesity in the paleolithic era

Laszlo G. Jozsa

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Photos and/or copies of one hundred Upper Paleolithic (45,000-40,000 to 10,000 BP) statues were studied, the photos having been taken from the frontal, lateral and back view. Among the 97 female idols studied, 24 were skinny (mainly young women), 15 were of normal weight, while more than half of them (51) represented overweight or very obese females whose breasts were also extremely large …

Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A

Maryam Nasiri Aghdam, Mohammad Reza Abbaszadegan, Alireza Tafazoli, Mohammad Aslzare, Zohreh Mosavi

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PURPOSE: Multiple Endocrine Neoplasia type 2A (MEN2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary parathyroid hyperplasia. In patients with only one or two clinical features, identification of a germ line RET (REarranged in Transfection) mutation is required to make the diagnosis and initiate genetic counseling. METHODS: We analyzed blood DNA from three Iranian families with three generations …

Pubertal arrest due to Zn deficiency The effect of zinc supplementation

Zuleyha Karaca, Fatih Tanriverdi, Selim Kurtoglu, Serife Tokalioglu, Kursad Unluhizarci, Fahrettin Kelestimur

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The Prasad S yndrome is characterized by iron deficiency anemia, hepatosplenomegaly, skin changes, hypogonadism, dwarfism and geophagia. Hypogonadism is a major manifestation of zinc (Zn) deficiency in both humans and animals. T he mechanism of hypogonadism caused by Zn deficiency has not been clarified…

Hyperinsulinemia during oral glucose tolerance test and high normal serum cortisol are associated with increased secretion of calcitonin in normal subjects

Antonis Polymeris, Peter D. Papapetrou, Fotini Papandroulaki, Stavroula Thanou

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OBJECTIVE: Previous studies showed that insulin stimulated directly calcitonin (Ct) secretion in the pig thyroid, while dexamethasone stimulated the production of Ct and Ct mRNA in medullary thyroid carcinoma (MTC) cell lines. The objective of this study was to investigate if hyperinsulinemia during the oral glucose tolerance test …

The gonadotroph origin of null cell adenomas

George Kontogeorgos, Eleni Thodou

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OBJECTIVE: The term “null cell” adenoma was first proposed in 1980 to designate pituitary adenomas lacking clinical, biochemical and morphological markers to disclose their cell origin. DESIGN: The aim of this study was to investigate the presence of α- and β-gonadotropin subunits in clinically nonfunctioning pituitary tumors …

Cushing’s syndrome in pregnancy: Report of a case and review of the literature

Marina Kita, Maria Sakalidou, Athanasios Saratzis, Sarris Ioannis, Avraam Avramides

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Cushing’s syndrome (CS) during pregnancy is a rare nosology with only a few cases reported in the literature. Misdiagnosis is common, as the syndrome may be easily confused with preeclampsia or gestational diabetes. CS during pregnancy is usually associated with severe maternal and fetal complications..

Escitalopram-induced subclinical hypothyroidism. A case report

Elias E. Mazokopakis, Christos M. Karefilakis, Ioannis K. Starakis

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Several conditions and drugs induce subclinical hypothyroidism. We report a case of asymptomatic and reversible subclinical hypothyroidism in a 48-year old woman with minor depressive disorder receiving therapy with escitalopram 20 mg daily for six months …

The human Ec peptide: the active core of a progression growth factor with species-specific mode of action

Efstathia Papageorgiou, Anastassios Philippou, Athanasios Armakolas, Panagiotis F. Christopoulos, Andreas Dimakakos, Michael Koutsilieris

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OBJECTIVE: Preferential IGF-1Ec expression has been firmly associated with skeletal muscle repair mechanisms, post-infarction remodeling of the myocardium, the pathophysiology of endometriosis and prostate cancer biology. Therefore, we have studied the possible biological significance of synthetic Ec peptide, a putative cleavage product of IGF-1Ec in PC-3 cells and C2C12 myoblasts …

Normal lumbar bone mineral density in optimally treated children and young adolescents with β-thalassaemia major

Athanasios Christoforidis, Eirini Kazantzidou, Ioanna Tsatra, Haido Tsantali, George Koliakos, Emmanouil Hatzipantelis, George Katzos, Miranda Athanassiou-Metaxa

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OBJECTIVE: Osteopenia/osteoporosis of multi-factorial pathogenetic mechanism is reported to be a significant cause of morbidity in adult patients with β-thalassaemia major. Even in young patients, decreased Bone Mineral Density (BMD) values are a consistent finding in the literature. This study was performed in order to assess BMD …

Harlequin Syndrome post-transsphenoidal pituitary macroadenoma surgery

Gonzalo Díaz-Soto, Maria J. Vaquerizo, Ciro García-Alvarez, Aurelia Villar-Bonet

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A 45-year-old woman, with a history of asymmetric facial flushing, was presented to the Endocrinology Unit after pituitary macroadenoma removal. After other pathological entities had been ruled out, she was diagnosed with harlequin syndrome following a lesion of the postganglionic …

The depiction of acromegaly in ancient Greek and Hellenistic art

Konstantinos Laios, Maria Zozolou, Konstantinos Markatos, Marianna Karamanou, George Androutsos

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In 1886, Pierre Marie (1853-1940) published the first accurate scientific description of acromegaly while also coining the term that we now employ (acromegaly today being used when the disease appears in adulthood, and gigantism when it is seen in childhood) …

Serum transforming growth factor-beta 1 levels in normoalbuminuric and normotensive patients with type 2 diabetes. Effect of metformin and rosiglitazone

Serkan Yener, Abdurrahman Comlekci, Baris Akinci, Pinar Akan, Tevfik Demir, Firat Bayraktar, Sena Yesil

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OBJECTIVE: a)To determine serum Transforming Growth Factor-beta 1 (TGF-β1) levels in patients with type 2 diabetes who do not have diabetes related complications and in healthy controls, b) to evaluate the effects of metformin and rosiglitazone on TGF-β1 levels …

Very premature pubarche in girls is not a pubertal variant

Françoise Paris, Nicolas Kalfa, Pascal Philibert, Claire Jeandel, Laura Gaspari, Charles Sultan

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Premature pubarche (PP) in girls is considered to be a benign phenomenon and is the clinical expression of premature adrenarche. Since it does not usually increase the risk of either abnormalities in pubertal development or a reduced final adult height, a non-interventional approach …

Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Eleni-Magdalini Kyritsi, Georgia Koltsida, Ioanna Farakla, Aikaterini Papanikolaou, Elena Critselis, Emilia Mantzou, Emmanouil Zoumakis, Gerasimos Kolaitis, George P. Chrousos, Evangelia Charmandari

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OBJECTIVE: Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production and compensatory increases in hypothalamic corticotropin-releasing hormone (CRH) secretion. Both cortisol and CRH have behavioral effects, and hypothalamic CRH hypersecretion has been associated with chronic states of anxiety and depression …