The Hippocratic Spirit

George K. Daikos

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The Hippocratic medical school (the medical school of Kos) was not an isolated phenomenon but the evolution and consequence of previous ideas and practices derived from many older sources. Hippocratic medicine1-3 replaced the theurgical and hieratic medicine, succeeding to and evolving from the medicine of the Minoan civilization of Crete …

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 …

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 …

Family history in the diagnosis of monogenic diabetes “leads and misleads”

Cristina Colom, Josep Oriola, Silvia Martínez, Francisco Blanco-Vaca, Roser Casamitjana, Rosa Corcoy

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Always granting that de novo mutations are possible, family history and biological characteristics are nonetheless crucial for the diagnosis of monogenic diabetes. We report here the case of two patients with monogenic diabetes in which the initial family history misled the diagnostic work-up and did not support the diagnosis …

Gonadotropin secreting pituitary adenoma associated with erythrocytosis: case report and literature review

Filippo Ceccato, Gianluca Occhi, Daniela Regazzo, Maria Luigia Randi, Diego Cecchin, Marina Paola Gardiman, Renzo Manara, Giuseppe Lombardi, Luca Denaro, Franco Mantero, Carla Scaroni

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BACKGROUND: Most pituitary adenomas with FSH- or LH-positive immunohistochemistry are endocrinologically silent, and neurological symptoms due to their large volume are the first clinical signs; they are rarely reported to be secreting gonadotropins, this usually occurring in cases with clinical endocrine findings …

Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation

Eduarda Resende, Gemma Novoa Gόmez, Marta Nascimento, Lourdes Loidi, Rebeca Saborido Fiaño, Paloma Cabanas Rodrίguez, Lidia Castro-Feijoo, Jesús Barreiro Conde

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Autoimmune polyglandular syndrome type 2 (type 2 APS), or Schmidt’s syndrome, is defined by the presence of Addison’s disease in combination with type 1 diabetes and/or autoimmune thyroid disease. The estimated prevalence of this syndrome is 1.4-4.5 per 100,000 inhabitants and it is more frequent in middle-aged females …

Clinical impact of strict criteria for selectivity and lateralization in adrenal vein sampling

Alessandro Gasparetto, John F. Angle, Pasha Darvishi, Colbey W. Freeman, Ray G. Norby, Robert M. Carey

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INTRODUCTION: Selectivity index (SI) and lateralization index (LI) thresholds determine the adequacy of adrenal vein sampling (AVS) and the degree of lateralization. The purpose of this study was investigate the clinical outcome of patients whose adrenal vein sampling was interpreted using “strict criteria” …

Ketonemia and ketonuria in gestational diabetes mellitus

Loukia Spanou, Kalliopi Dalakleidi, Konstantia Zarkogianni, Anastasia Papadimitriou, Konstantina Nikita, Vasiliki Vasileiou, Maria Alevizaki, EleniAnastasiou

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BACKGROUND: The use of capillary blood 3-β-hydroxybutyrate (3HB) is a more precise method than urine ketones measurement for the diagnosis of diabetic ketoacidosis. Fasting ketonuria is common during normal pregnancy, while there is evidence that it is increased among pregnant women with Gestational Diabetes Mellitus …

A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children

Roberta Minari, Alessandra Vottero, Francesco Tassi, Isabella Viani, Tauro Maria Neri, Maria Elisabeth Street, Lucia Ghizzoni, Sergio Bernasconi, Davide Martorana

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OBJECTIVE:  Congenital adrenal hypoplasia (CAH) is a rare disorder that can be inherited in an X-linked or autosomal recessive pattern. CAH is frequently associated with hypogonadotropic hypogonadism (HHG) with absent or arrested puberty and impaired fertility caused by abnormalities in spermatogenesis …

Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene

Carmen Entrala-Bernal, Cristina Montes-Castillo, Maria Jesus Alvarez-Cubero, Carmen Gutiérrez-Alcántara, Francisco Fernandez-Rosado, Esther Martinez-Espίn, Carolina Sánchez-Malo, Piedad Santiago-Fernández

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Kallmann Syndrome (KS) is a genetic disease of embryonic development which is characterized by the association of hypogonadotropic hypogonadism (HH) due to a deficit of the gonadotropin-releasing hormone (GnRH) and a hypo/anosmia (including a hypoplasia of the nasal sulcus and agenesis of the olfactory bulbs) …

Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review

Maria P. Yavropoulou, Kalliopi Kotsa, Anna Gotzamani Psarrakou, Αlexandra Papazisi, Τheoni Tranga, Stelios Ventis, John G. Yovos

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X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth …

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

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 …

Acrodysostosis associated with hypercalcemia

Mehmet Kirnap, Mustafa Calis, Cumali Gokce, Selim Kurtoglu, Mustafa Ozturk, Fahrettin Kelestimur

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An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs. In addition, he also had facial abnormalities of frontal bossing …

A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism

İsmail Hakki Kalkan, Öykü Tayfur, Erkin Öztaş, Yavuz Beyazit, Hakan Yildiz, Bilge Tunç

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder caused by mutations in the gene encoding thymidine phosphorylase (endothelial cell growth factor 1) (ECGF1) …

The antiepileptic drug carbamazepine can cause adrenal insufficiency in patients under hormone replacement therapy for congenital adrenal hyperplasia

Damiano Gullo, Rossella Gelsomino, Ilenia Marturano, Domenico Restivo, Maria Luisa Arpi, Daniela Leonardi, Giuseppina Parrinello, Sebastiano Squatrito

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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH) is treated with both glucocorticoids (to suppress pituitary ACTH and adrenal androgen production) and mineralocorticoids (to reduce angiotensin II concentrations) …

Case Report: Teriparatide treatment in a case of severe pregnancy -and lactation- associated osteoporosis

Kalliopi Lampropoulou-Adamidou, George Trovas, Ioannis P. Stathopoulos, Nikolaos A. Papaioannou

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OBJECTIVE: Pregnancy- and lactation-associated osteoporosis (PLO) is an uncommon disease. The majority of cases are seen in the third trimester or early post-partum in primagravid women and the prominent clinical feature of PLO is severe and prolonged back pain and height loss. The prevalence and aetiology of this disorder …

Tadeus Reichstein, co-winner of the Nobel Prize for Physiology or Medicine: On the occasion of the 110th anniversary of his birth in Poland

Andrzej Wincewicz, Mariola Sulkowska, Stanislaw Sulkowski

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Tadeus Reichstein (1897-1996) was the first scientist born in Poland to receive the Nobel Prize in Medicine or Physiology (1950) for the “discovery of hormones of the adrenal cortex, their structure and biological effects”, as stated by the Nobel Prize Committee. His family being deeply devoted to Polish cultural and historical heritage

Cushing’s syndrome due to an ACTH-producing primary ovarian carcinoma

Eftekhar H. Al Ojaimi

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Although Cushing’s syndrome has been described in association with various neuroendocrine tumors producing ectopic adrenocorticotropin (ACTH), primary ovarian carcinoma rarely causes this syndrome. We hereby report the case of a 61-year-old woman presented with abdominal distension, facial swelling and skin pigmentation …

Macrosomia and ambiguous genitalia: a long overdue answer to the citizens of Frusino

Vasiliki Vasileiou, Anastasia K. Armeni, Apostolos L. Pierris, Neoklis A. Georgopoulos

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In the literature of the Roman Era, a case of macrosomia and genital ambiguity in a newborn is described. Textual evidence concerning this case of androgynism and its symbolism is provided in the present study. Medical interpretation of such cases covers the entire spectrum …

Aretaeus of Cappadocia and the first description of diabetes

Konstantinos Laios, Marianna Karamanou, Zenia Saridaki, George Androutsos

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The name Aretaeus of Cappadocia has been linked with diabetes more than that of any other physician of antiquity, his texts forming a sophisticated synthesis of the previous knowledge on this disease copiously supplemented by his own observations …

The adrenal glands: a brief historical perspective

Basil Leoutsakos, Agnes Leoutsakos

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There have been numerous references to the existence of the adrenal glands ever since ancient times, with an increasing amount of knowledge being accumulated and recorded from the 16th century on.1 Although it would evidently not be possible to cover the plethora of historical references to these glands, a historical outline is herein undertaken…

Over-supplementation of vitamin D in two patients with primary hyperparathyroidism

Claudia Battista, Raffaella Viti, Salvatore Minisola, Iacopo Chiodini, Vincenzo Frusciante, Alfredo Scillitani, Vincenzo Carnevale

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OBJECTIVE: To describe the biochemical effects of an over-supplementation of vitamin D3 in two patients with primary hyperparathyroidism (PHPT). DESIGN: Two patients (A and B) with PHPT took erroneously 2,400,000U …

Autonomously functioning thyroid nodule treated with radioactive iodine and later diagnosed as papillary thyroid cancer

Mehmet Uludag, Gurkan Yetkin, Bulent Citgez, Adnan Isgor, Tulay Basak

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The malignancy risk is low in hot thyroid nodules verified by scintigraphy. We present a rare case of papillary carcinoma, initially treated as an autonomous hot nodule. Case report. A 36-year old male patient with a hot thyroid nodule and subclinical hyperthyroidism was treated with 10mCi 131I.