A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency

Olga V. Fofanova, Oleg V. Evgrafov, Alexander V. Polyakov, Valentina A. Peterkova, Ivan I. Dedov

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Isolated Growth Hormone Deficiency (IGHD) due to GH1 gene defects has a variable inheritance pattern: autosomal recessive, autosomal dominant, and X-linked. the autosomal dominantly inherited form, IGHD II, is mainly caused by heterozygous mutations of splicing around the exon 3/IVs3 boundary region of the GH1 gene resulting in exon 3 skipping of transcripts …

Case Report: Primary pituitary non-Hodgkin’s lymphoma developed following surgery and radiation of a pituitary macroadenoma

Labrini Papanastasiou, Theodora Pappa, Aikaterini Dasou, Efi Kyrodimou, George Kontogeorgos, Christianna Samara, Panagiotis Bacaracos, Athanasios Galanopoulos, George Piaditis

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OBJECTIVE: Primary central nervous system (CNS) non-Hodgkin’s lymphoma is a rarely encountered clinical entity. Here we present a case of a primary CNS diffuse large B-cell non-Hodgkin’s lymphoma developed on a previously operated and irradiated pituitary macroadenoma. DESIGN-RESULTS: A 60-year-old woman presented with muscle weakness …

The impact of thyroid autoimmunity (TPOAb) on bone density and fracture risk in postmenopausal women

Snezana P. Polovina, Dragana Miljic, Sladjana Zivojinovic, Natasa Milic, Dragan Micic, Vera Popovic Brkic

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OBJECTIVE: Skeletal development, linear growth, cartilage biology and bone turnover are highly dependent on the activity of thyroid hormones. Thyroid dysfunction affects the skeleton, and autoimmune thyroid disease, manifesting as a chronic inflammatory condition, may be an important contributing factor to impaired bone quality in these patients. MATERIALS AND METHODS: Measurement of TSH, FT4, TPOAb and bone mineral density and FRAX score calculations were performed …

Thyroid tuberculosis

Konstantinos Terzidis, Panagoula Tourli, Erasmia Kiapekou, Maria Alevizaki

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Although the association of thyroid disorders with tuberculosis has been known for a long time, the diagnosis of thyroid tuberculosis is rare. Differential diagnosis can be very difficult without fine needle aspiration. The clinical course of the disease may resemble toxic goiter or acute thyroiditis or may follow a subacute or chronic pattern without specific symptomatology…

PROP-1 gene mutations in a 63-year-old woman presenting with osteoporosis and hyperlipidaemia

Maria Andrikoula, Amalia Sertedaki, Sofia Andrikoula, Catherine Dacou-Voutetakis, Agathocles Tsatsoulis

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PROP-1 gene mutations have been reported as a cause of combined pituitary hormone deficiency. Physical and hormonal phenotypes of affected individuals are variable. We report a 63-year-old female who presented with osteoporosis

PTH and PTHR1 in osteocytes. New insights into old partners

Maria P. Yavropoulou, Alexandros Michopoulos, John G. Yovos

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Parathyroid hormone receptors are present in bone cells and play a crucial role in the maintenance of skeletal integrity, bone homeostasis and regulation of calcium and phosphate metabolism. Although the function of these receptors has long being recognized in the cells of the osteoblastic lineage regulating directly osteoblast differentiation and function and indirectly osteoclastogenesis …

Growth hormone deficiency in a patient with autoimmune polyendocrinopathy type 2

Asteroula Papathanasiou, Eleni Kousta, Vasiliki Skarpa, Petros Papachileos, Vasilios Petrou, Charalambos Hadjiathanasiou

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Autoimmune polyglandular syndrome (APs) type 2 is characterized by the presence of Addison’s disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus and is rare in children. A 12.5yr old prepubertal boy presented with symptoms related to Addison’s disease and a large goiter. He was euthyroid with positive thyroid antibodies, low cortisol, aldosterone and very high adrenocorticotropin …

A thymic carcinoid tumour causing Zollinger-Ellison and Cushing’s syndromes due to ectopic ACTH and gastrin secretion

Noel P. Somasundaram, Chaminda Garusinghe, Dan Berney, Ashley B. Grossman

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Cushings’s syndrome due to ectopic adrenocorticotrophin (ACTH) secretion was first described nearly a century ago by Hurst Brown. Bronchial carcinomas, usually bronchial carcinoids, were the first to be described and continue to be the leading cause of the ectopic ACTH syndrome …

Adiponectin levels may help assess the clinical repercussions of obesity irrespective of body mass index

Eirini Dermitzaki, Pavlina D. Avgoustinaki, Eirini C. Spyridaki, Panagiotis Simos, Niki Malliaraki, Maria Venihaki, Christos Tsatsanis, Andrew N. Margioris

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OBJECTIVE: Adiponectin is the major product of adipose tissue. The aim of this study was to associate adiponectin levels with adipose tissue and metabolic indices. DESIGN: Plasma samples of 274 non-diabetic volunteers were collected to evaluate for adiponectin, inflammatory markers, insulin and lipid parameters. Body fat composition was measured by DEXA. RESULTS: As expected, adiponectin levels correlated with body mass index (BMI) …

A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris

Assimina Galli-Tsinopoulou, Eleftheria Emmanouilidou, Paraskevi Karagianni, Maria Grigoriadou, John Kirkos, George S. Varlamis

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Silver Russell Syndrome (SRS) is a rare condition (1/3000 – 1/100,000 newborns). We present a female infant with SRS, cardiac malposition and asymmetric enlargement of the clitoris. She is the first child of Greek nonconsanguinous parents, born at 38 weeks gestation …

Sequential treatment with teriparatide and strontium ranelate in a postmenopausal woman with atypical femoral fractures after long-term bisphosphonate administration

Kalliopi Lampropoulou-Adamidou, Symeon Tournis, Alexia Balanika, Ioulia Antoniou, Ioannis P. Stathopoulos, Christos Baltas, Ioannis K. Triantafillopoulos, Nikolaos A. Papaioannou

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OBJECTIVE: Despite the existence of numerous case series, no evidenced-based medical management for atypical fractures associated with bisphosphonate (BP) treatment has been established. DESIGN: We report the outcome of teriparatide (TRP) administration followed …

Baseline glucose homeostasis predicts the new onset of diabetes during statin therapy: A retrospective study in real life

Maria Chantal Ponziani, Ioannis Karamouzis, Chiara Mele, Luisa Chasseur, Marco Zavattaro, Marina Caputo, Maria Teresa Samà, Arianna Busti, Loredana Pagano, Luigi Castello, Paolo Marzullo, Gianluca Aimaretti, Flavia Prodam

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OBJECTIVE. We evaluated the risk of altered glucose levels and new-onset diabetes (NOD) associated with statins according to glucose levels at baseline in a population treated for dyslipidemia on primary prevention for >5 years. DESIGN. The retrospective study included 308 subjects (265 on statins and 43 controls on diet) with a follow-up of 5-15 years …

Precocious pseudopuberty due to autonomous ovarian cysts: A report of ten cases and long-term follow-up

Gideon de Sousa, Rainer Wunsch, Werner Andler

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We report the findings and clinical course of ten girls aged 0.2 to 6.3 years with precocious pseudopuberty due to autonomous ovarian cysts. We found elevated oestrogen levels in five patients and failure of gonadotropin response to GnRH stimulation in four patients during the first episode, of the disease …

Effects of testosterone and estradiol on stress-induced adrenal and hippocampal weight changes in female rats

Anastasia Sfikakis, Pothitos M. Pitychoutis, Aikaterini Tsouma, Ioanna Messari, Zeta Papadopoulou-Daifoti

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OBJECTIVE: To examine the impact of circulating testosterone (T) and the T/Estradiol (T/Ediol) ratio on chronic stress-induced changes of adrenal and hippocampal weight during proestrus (PE) and estrus (E) in female rats. DESIGN: Stress was composed of repeated vaginal smear screening (VSS) and measured by the emotional reactivity score …

Metabolic profiles of adult Wistar rats in relation to prenatal and postnatal nutritional manipulation: The role of birthweight

Makarios Eleftheriades, Panagiota Pervanidou, Homeira Vafaei, George Vaggos, Ismene Dontas, Katerina Skenderi, Neil J. Sebire, Kypros Nicolaides

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OBJECTIVE: This experimental study aimed to prospectively investigate the impact of combinations of prenatal and postnatal food manipulations on the metabolic profile of adult offspring. DESIGN: On day 12 of gestation, 67 timed pregnant rats were randomized into three nutritional groups …

Predictors of amputation in diabetics with foot ulcer: Single center experience in a large Turkish cohort

Sena Yesil, Baris Akinci, Serkan Yener, Firat Bayraktar, Ozalp Karabay, Hasan Havitcioglu, Nur Yapar, Atay Atabey5 Yasin Kucukyavas, Abdurrahman Comlekci, Sevinc Eraslan

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OBJECTIVE: Prediction of diabetic foot ulcer outcome may be helpful for clinicians in optimizing and individualizing management strategy. The aim of the present study was to examine the possibility of predicting the outcome of patients with diabetic foot ulcers by using easily assessed clinical and laboratory parameters at baseline …

A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia

Aleksandra Rojek, Maciej Flader, Elzbieta Malecka, Marek Niedziela

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OBJECTIVE: X-linked Adrenal Hypoplasia Congenita (AHC) is a rare disorder caused by mutations in NR0B1 (DAX1) gene. DESIGN: We present two boys (cousins) with AHC who came to our attention at the age of 10 days and 15 days, respectively, in a life-threatening state …

The differential impact of volatile and intravenous anaesthetics on stress response in the swine

Georgia Kostopanagiotou, Konstantinos Kalimeris, Kalliopi Christodoulaki, Constantinos Nastos, Nikolaos Papoutsidakis, Cleanthi Dima, Charalampos Chrelias, Ageliki Pandazi, Iordanis Mourouzis, Constantinos Pantos

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OBJECTIVE: To compare the effects of various anaesthetics on stress response in the presence and absence of surgical stimulation. DESIGN: Twenty-nine pigs scheduled to undergo surgical central vein catheter placement were randomly allocated to receive only sedation with ketamine-midazolam (group SHAM, n=5) or general anaesthesia …

Severe hypothyroidism due to autoimmune thyroiditis in a child: a one-year follow-up

Francesco Vierucci, Graziano Cesaretti

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Autoimmune thyroiditis is considered to be the most common autoimmune condition, with a female preponderance of 2:1. While its overall prevalence peaks in adulthood, autoimmune thyroiditis may affect children and adolescents, particularly during early to mid-puberty …

Parental involvement does not augment the effectiveness of an intense behavioral program for the treatment of childhood obesity

Eirini Bathrellou, Mary Yannakoulia, Katerina Papanikolaou, Artemios Pehlivanidis, Panagiota Pervanidou, Christina Kanaka-Gantenbein, Ioanna Tokou, John Tsiantis, George P. Chrousos, Labros S. Sidossis

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OBJECTIVE: To evaluate the effectiveness of active parental involvement in a lifestyle intervention for the management of childhood obesity. DESIGN: Forty-two overweight children (32 girls and 10 boys), aged 9.2±0.2 years and with percent overweight 39.8±2.7%, were randomly allocated either to a child-and-parent group …

Reversal of impaired counterregulatory cortisol response following diazoxide treatment in a patient with non insulinoma pancreatogenous hypoglycemia syndrome: Case report and overview of pathogenetic mechanisms

Stelios Fountoulakis, Dimosthenis Malliopoulos, Labrini Papanastasiou, Theodora Pappa, George Karydas, George Piaditis

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OBJECTIVE: Non-insulinoma pancreatogenous hypoglycemia syndrome (NIPHS) is one of the rare causes of endogenous hyperinsulinism. Its diagnosis is challenging and may require selective intraarterial calcium stimulation and concomitant hepatic vein sampling (SACVS). Impaired counterregulatory hormones’ production in response to hypoglycemia …

Optic neuropathy following radiotherapy for Cushing?s disease: case report and literature review

Nikiforos Ballian, Ioannis I. Androulakis, Klio Chatzistefanou, Christianna Samara, Konstantinos Tsiveriotis, Gregory A. Kaltsas

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Radiation-induced optic neuropathy is a rare adverse effect of radiotherapy applied for the treatment of pituitary adenomas. We report a patient with a recurrent adrenocorticotrophin secreting pituitary adenoma who received external beam irradiation after failing surgical and medical therapy …

Papillary thyroid cancer in a struma ovarii: a report of a rare case

Eleonora Monti, Lorenzo Mortara, Simonetta Zupo, Mariella Dono, Francesco Minuto, Mauro Truini, Mehrdad Naseri, Massimo Giusti

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After removal of an ovarian mass in a 43-year-old woman, a struma ovarii was diagnosed. Within this teratoma, a papillary thyroid cancer was found. The tumor was negative for BRAF, NRAS, KRAS, PIK3CA and c-KIT mutations on molecular analysis …