Maria Francesca Messina, Tommaso Aversa, Luisa de Sanctis, Malgorzata Wasniewska, Mariella Valenzise, Giovanni Battista Pajno, Filippo De Luca, Fortunato Lombardo
BACKGROUND: This study was carried out because of the rarity of peripheral precocious puberty (PPP) in boys with McCune-Albright syndrome (MAS) and the lack of data on adult height of treated MAS males, treatment for this disorder being not as yet standardized …
Ahmet Anık, Gönül Çatlı, Ayhan Abacı, Handan Güleryüz, Çağdaş Güdücü, Adile Öniz, Şule Can, Bumin Dündar, Ece Böber
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 …
Maria Hassapidou, Efstratia Daskalou, Fotini Tsofliou, Konstantinos Tziomalos, Anastasia Paschaleri, Ioannis Pagkalos, Themistoklis Tzotzas
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 …
Costas Koufaris, Angelos Alexandrou, Carolina Sismani, Nicos Skordis
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 …
Silvano Bertelloni, Eleonora Dati, Angelo Valetto, Veronica Bertini, Alfredo Danti, Giampiero I. Baroncelli
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 …
Michela Rosaria Campo, Olga Lamacchia, Anna Farese, Antonella Conserva, Giuseppe Picca, Gianpaolo Grilli, Mauro Cignarelli
OBJECTIVE: Primary pigmented nodular adrenocortical disease (PPNAD), an uncommon cause of Cushing’s syndrome, is frequently associated with a wider clinical spectrum, the Carney complex (CC), a multiple endocrine neoplasia syndrome …
Panagiota Pervanidou, Despoina Bastaki, Giorgos Chouliaras, Katerina Papanikolaou, Christina Kanaka-Gantenbein, George Chrousos
OBJECTIVE: Pediatric obesity commonly co-exists with emotional and behavioral disorders, while disturbed cortisol concentrations have been reported in both obese and chronically stressed individuals with anxiety and/or depression. We investigated the prevalence of internalizing and externalizing problems …
Anna Angelousi, Filip Fencl, Fabio R. Faucz, Jana Malikova, Zdenek Sumnik, Jan Lebl, Constantine A. Stratakis
OBJECTIVE: Corticotropin (ACTH)-independent hypercortisolism due to bilateral adrenocortical hyperplasia (BAH) in infancy is an extremely rare condition that is often caused by McCune Albright syndrome (MAS). MAS is caused by an activating mutation of the GNAS gene which leads to increased cyclic (c) adenosine monophosphate (AMP) signaling …
Elena Tsourdi, Matthias Gruber, Martina Rauner, Judith Blankenburg, Tjalf Ziemssen, Lorenz C. Hofbauer
CONTEXT: Alemtuzumab, a humanized monoclonal antibody against CD52, is effective in the treatment of early relapsing-remitting multiple sclerosis (MS). Common adverse effects include an acute-phase reaction, infections and autoimmune diseases, including thyroid disorders …
Stelios Fountoulakis, Dimosthenis Malliopoulos, Labrini Papanastasiou, Theodora Pappa, George Karydas, George Piaditis
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 …
Stelios Fountoulakis, Labrini Papanastasiou, Alexandros Gryparis, Athina Markou, George Piaditis
OBJECTIVE: To monitor and control the blood glucose levels in inefficiently insulin-treated patients with type 1 and 2 diabetes mellitus (DM) using a telemonitoring system and determine whether the improvement of HbA1c has a lasting effect following its discontinuation …
Eleonora Monti, Lorenzo Mortara, Simonetta Zupo, Mariella Dono, Francesco Minuto, Mauro Truini, Mehrdad Naseri, Massimo Giusti
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 …
Alfredo Campennì, Salvatore Giovinazzo, Lorenzo Curtò, Ernesto Giordano, Maria Trovato, Rosaria M. Ruggeri, Sergio Baldari
OBJECTIVE: Thyroid hemiagenesis is a rare congenital disorder characterized by the absence of a lobe and/or of isthmus. Studies on the association between thyroid hemiagenesis, Graves’ disease and differentiated thyroid cancer are rare …
Eduarda Resende, Gemma Novoa Gόmez, Marta Nascimento, Lourdes Loidi, Rebeca Saborido Fiaño, Paloma Cabanas Rodrίguez, Lidia Castro-Feijoo, Jesús Barreiro Conde
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 …
Loukia Spanou, Kalliopi Dalakleidi, Konstantia Zarkogianni, Anastasia Papadimitriou, Konstantina Nikita, Vasiliki Vasileiou, Maria Alevizaki, EleniAnastasiou
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 …
Roberta Minari, Alessandra Vottero, Francesco Tassi, Isabella Viani, Tauro Maria Neri, Maria Elisabeth Street, Lucia Ghizzoni, Sergio Bernasconi, Davide Martorana
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 …
Sorina Martin, Anca Sirbu, Minodora Betivoiu, Suzana Florea, Carmen Barbu, Simona Fica
OBJECTIVE: Thyroid hormones influence the GH/IGF1 axis, but previous studies have reported discrepant results regarding serum IGF1 levels in hyperthyroidism. We have therefore investigated, at diagnosis, the relationship between serum IGF1 levels and the main characteristics of Graves’ disease (GD) …
Georgios K. Markantes, Efthimios Deligeoroglou, Anastasia K. Armeni, Vasiliki Vasileiou, Christina Damoulari, Angelina Mandrapilia, Fotini Kosmopoulou, Varvara Keramisanou, Danai Georgakopoulou, George Creatsas, Neoklis A. Georgopoulos
Diodorus Siculus (Diodoros Sikeliotes) was a Greek historian and writer who lived in the 1st century B.C. He is renowned for his universal history, “Bibliotheca Historica” (Historical Library), in which cases of sexual reassignment occurring around his time were included …
Eva Lau, Davide Carvalho, Joana Oliveira, Susana Fernandes, Paula Freitas
Familial partial lipodystrophy is an autosomal dominant genetic disorder characterized by lipoatrophy of the extremities and gluteal region and lipohypertrophy of the face, neck and/or trunk. It is associated with insulin resistance, hypertriglyceridemia and increased risk of recurrent episodes of pancreatitis …
Peter D. Papapetrou
According to a previously published theory, Socrates was afflicted with temporal lobe epilepsy since his childhood. Plato, Xenophon, and Aristoxenus described Socrates as having exophthalmos, probably diplopia, and some symptoms compatible with hyperthyroidism …
Guo-li Du, Zhong-hua Liu, Min Chen, Rui Ma, Sheng Jiang, Miriguli Shayiti, Jun Zhu, Aibibai Yusufu
OBJECTIVE: To evaluate the clinical and hormonal characteristics of patients with Sheehan’s syndrome in Xinjiang, China. METHODS: 97 cases diagnosed as Sheehan’s syndrome in our hospital from 1999 to 2013 were retrospectively reviewed …
Evaggelia Zapanti, Aikaterini Polonifi, Michalis Kokkinos, George Boutzios, Georgia Kassi, Narjes Nasiri Ansari, Eva Kassi, Aris Polyzos
PURPOSE: Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH). Here we report three siblings with FHH caused by a novel mutation in the CASR. METHODS: The case subject was a 60-year-old patient referred because of mild hypercalcaemia …
Ozan M. Demir, Stavroula A. Paschou, Huw Christopher Ellis, Michael Fitzpatrick, Andreas S Kalogeropoulos, Andrew Davies, Jeremy Thompson, Simon W. Davies, Julia Grapsa
The following case presents a new insight into the relationship of glucagonomas with dilated cardiomyopathy which endocrinologists should be aware of. A 64-year old Caucasian man, born and raised in Zimbabwe, was admitted with acute pulmonary edema …
Gesthimani Mintziori, Dimitrios G. Goulis
It is with great interest that we read the detailed and well enunciated comparison between the American Thyroid Association (ATA) and the Endocrine Society (ES) practice guidelines for the screening and treatment of hypothyroidism during pregnancy that was published in the last issue of Hormones …
Christos M. Hatzis, Dimitra Sifaki-Pistolla, Anthony G. Kafatos
It was a great pleasure to read the manuscript of Hatzis CM et al, 2013, published in the Hormones Journal. This article presented the results for cardiovascular risk factors of the Cretan cohort of the Seven Countries Study (SCS) …