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 …

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) …

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 …

Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis

Valeria Alcantara-Aragon, Silvia Martinez-Couselo, Diana Tundidor-Rengel, Susan M. Webb, Gemma Carreras, Juan J. Espinos, Ana Chico, Francisco Blanco-Vaca, Rosa Corcoy

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Non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency is one of the most frequent autosomal recessive diseases, with an estimated prevalence of 1 in 1000. It may manifest at different stages in life. In late childhood, it may present with advanced skeletal maturation …

Hypocalcaemia following thyroidectomy unresponsive to oral therapy

Zac C. Etheridge, Christopher Schofield, Peter J.J. Prinsloo, Nigel D.C. Sturrock

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Hypocalcaemia due to hypoparathyroidism following thyroidectomy is a relatively common occurrence. Standard treatment is with oral calcium and vitamin D replacement therapy; lack of response to oral therapy is rare. Herein we describe a case of hypoparathyroidism following thyroidectomy unresponsive to oral therapy …

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 …

Adipsic diabetes insipidus and venous thromboembolism (VTE): recommendations for addressing its hypercoagulability

Dragana Miljic, Predrag Miljic, Mirjana Doknic, Sandra Pekic, Marko Stojanovic, Milan Petakov, Vera Popovic

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Adipsic diabetes insipidus (ADI) is a rare disorder. It can occur after transcranial surgery for craniopharyngeoma, suprasellar pituitary adenoma and anterior communicating artery aneurysm but also with head injury, toluene exposure and developmental disorders. It is often associated with significant hypothalamic dysfunction …

Brain and optic chiasmal herniation following cabergoline treatment for a giant prolactinoma: wait or intervene?

Labrini Papanastasiou, Stelios Fountoulakis, Theodora Pappa, Konstantinos Liberopoulos, Dimosthenis Malliopoulos, Athina Markou, George Piaditis

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OBJECTIVE: Dopamine agonists (DA) are the treatment of choice in patients with macroprolactinomas. Brain and optic chiasm herniation are unusual complications following treatment with DA. REPORT: We present a case of a giant prolactinoma complicated by visual deterioration following cabergoline treatment …

X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

Olga Karapanou, Barbara Vlassopoulou, Marinella Tzanela, Dimitrios Papadopoulos, Panagiotis Angelidakis, Helen Michelakakis, George Ioannidis, Markos Mihalatos, Smaragda Kamakari, Stylianos Tsagarakis

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We present the clinical and hormonal findings of a young male with X-linked adrenoleukodystrophy (X-ALD), with special emphasis on the biochemical and clinical pattern of hypogonadism. A patient, with primary adrenal insufficiency since the age of 5 years, developed progressive neurological symptoms at the age of 29 …

Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia

Anastasia P. Athanasoulia, Günter K. Stalla, Matthias K. Auer

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BACKGROUND: Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with the normal development of male external genitalia in 46,XY individuals. It is mediated by mutations in the lutropin/choriogonadotropin receptor gene, resulting in the impairment of either the binding of hormone or signal transduction …

The metabolic syndrome among preschool and school age children and adolescents in Crete in the first decade of the 21st century

Christos M. Hatzis, Christopher Papandreou, Dimitra Sifaki-Pistolla, Christine Jildeh, Anthony G. Kafatos

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In Greece as well as worldwide, studies on the prevalence of metabolic syndrome (MetS) in children/adolescents began to take place in the second half of the 20th century. It was indicated that the prevalence of MetS is mostly predicted by the presence of obesity and particularly abdominal obesity …

Apollinaire Bouchardat (1806-1886): founder of modern Diabetology

Marianna Karamanou, Michael Koutsilieris, Konstantinos Laios, Filio Marineli, George Androutsos

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Apollinaire Bouchardat is regarded as the founder of the field of Diabetology. His contributions to the field include the first known recommendations for specific diets for the management of Diabetes Mellitus and his emphasis on patient education and self-monitoring. He was moreover a great pharmacist as well as a distinguished physician and biochemist …

When genotype prevails: sexual female-to-male transformation in Classical Antiquity, recorded by Gaius Plinius Secundus and Phlegon

Anastasia K. Armeni, Vasiliki Vasileiou, Neoklis A. Georgopoulos

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Cases of sexual reassignment in classical antiquity, namely a female-to-male gender change occurring after childhood, are described in the literature. Textual evidence concerning these cases of androgynism and their symbolism as well as a comprehensive scholar analysis is provided in the present study …

Cognitive function in Hashimoto’s thyroiditis under levothyroxine treatment

Vaitsa Giannouli, Konstantinos A. Toulis, Nikolaos Syrmos

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ΟBJECTIVE: Although overt hypothyroidism has been documented as exerting detrimental effects on cognition and behavior, it remains controversial whether subclinical hypothyroidism or euthyroid patients with Hashimoto’s thyroiditis (HT) under levothyroxine (LT4) treatment …