Atypical presentation of a hormonally active adrenocortical tumor in an adolescent leading to delayed diagnosis

Kerstin Hagemann, Maura Zanolari Calderari, Aurel Perren, Ian Cree, Primus E. Mullis, Christa E. Flück

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Adrenocortical tumors are rare in children and present with variable signs depending on the type of hormone excess. We herein describe the unusual presentation of a child with adrenocortical tumor and introduce the concept of in vitro chemosensitivity testing. CASE REPORT: A 10.5-year-old girl presented with hypertrichosis/hirsutism and weight loss …

Progesterone pretreatment increases the stress response to social isolation in ewes

Aline Freitas-de-Melo, Juan Pablo Damián, Maria José Hötzel, Georgget Banchero, Rodolfo Ungerfeld

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OBJECTIVE: In rodents, progesterone (P4) pretreatment increases anxiety and response to stressors. Social isolation is a stressor that generates physiological and behavioural stress responses in sheep. The aim of the study was to compare the stress response of anoestrous ewes previously treated or not with P4 to the social isolation test. DESIGN: Ten ewes received P4 treatment during 13 d (group P4-W) and another 10 remained untreated as controls (group Con) …

Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency

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

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CASE PRESENTATION: A 36-year old man, operated on for cryptorchidism at the age of 8 years, was referred to the Outpatient Clinic of Reproductive Endocrinology for investigation of infertility. Clinical examination revealed ambiguous genitalia: penis 4-5 cm, testicular volume 2-3 ml, hypospadias, hypertrophic foreskin and scrotum bifida. Mild hypertension was confirmed. No skeletal malformations were detected …

Cyclopes and Giants: From Homer’s Odyssey to contemporary genetic diagnosis

Georgios K. Markantes, Anastasia Theodoropoulou, Anastasia K. Armeni, Vasiliki Vasileiou, Constantine A. Stratakis, Neoklis A. Georgopoulos

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Giant is a term used to describe a legendary humanlike being of great stature and strength. In Greek mythology, the giants Cyclopes rebelled against the Olympian Gods in a battle that ended in their final defeat, this resulting in Olympian sovereignty on earth …

Diagnostic value of the water deprivation test in the polyuria-polydipsia syndrome

Penelope Trimpou, Daniel S. Olsson, Olof Ehn, Oskar Ragnarsson

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OBJECTIVE: Diabetes insipidus (DI) and primary polydipsia (PP) are characterised by polyuria and polydipsia. It is crucial to differentiate between these two disorders since the treatment is different. The aim of this study was to evaluate the diagnostic value of the short and an extended variant of the water deprivation test (WDT) and of measuring urinary vasopressin (AVP) in patients with polyuria and polydipsia.
DESIGN: A retrospective, single-centre study based on WDTs performed …

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 …

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 …

Reversal of dilated cardiomyopathy after glucagonoma excision

Ozan M. Demir, Stavroula A. Paschou, Huw Christopher Ellis, Michael Fitzpatrick, Andreas S Kalogeropoulos, Andrew Davies, Jeremy Thompson, Simon W. Davies, Julia Grapsa

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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 …

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros

Evaggelia Zapanti, Aikaterini Polonifi, Michalis Kokkinos, George Boutzios, Georgia Kassi, Narjes Nasiri Ansari, Eva Kassi, Aris Polyzos

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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 …

Sheehan’s syndrome in Xinjiang: Clinical characteristics and laboratory evaluation of 97 patients

Guo-li Du, Zhong-hua Liu, Min Chen, Rui Ma, Sheng Jiang, Miriguli Shayiti, Jun Zhu, Aibibai Yusufu

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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 …

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 …

Thyrotoxic hypokalemic periodic paralysis in a Turkish patient presenting with a U wave on ECG

Emre Gezer, Banu Şarer Yurekli, Gokçen Unal Kocabas

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Hypokalemic periodic paralysis (HPP) is a rare neuromuscular disorder caused by dysfunction of the ion channels in red muscle cells and which is characterized by painless episodes of muscle weakness generally after strenuous exertion or a high-carbohydrate meal …

Hypoglycaemia: Possible mediation by chromium salt medication

Shabana Valiji Bharmal, Veronica Moyes, Sahid Ahmed, Ashley Grossman

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Drugs are the commonest cause of hypoglycaemia in patients without diabetes mellitus. However, in spite of this, a recent review highlighted the poor quality of evidence available supporting the association between numerous drugs and hypoglycaemia …

Association between TPO Asn698Thr and Thr725Pro gene polymorphisms and serum anti-TPO levels in Iranian patients with subclinical hypothyroidism

Amirhosein Khoshi, Alireza Sirghani, Mehran Ghazisaeedi, Ali Zarei Mahmudabadi, Amir Azimian

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OBJECTIVE: Subclinical hypothyroidism (SCH) is defined as high levels of TSH in the presence of normal levels of serum FT4. Since thyroid peroxidase (TPO) plays a key role in thyroid hormone synthesis, variations in the TPO gene can change the enzyme structure and result in the production of anti-TPO antibodies. The aim of this study was to examine the relationship between the Asn698Thr (A2095C) and Thr725Pro (A2173C) polymorphisms of the TPO gene and anti-TPO levels in patients with SCH …

The history of the parathyroid glands

Ilias-Dimitrios Kafetzis, Antonis Diamantopoulos, Ioannis Christakis, Basileios Leoutsakos

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Greep in 1963 as well as Pang and Epple in 1980 advanced the view that the parathyroids originally appeared 100 million years ago, in the context of the evolutionary development of amphibians. This coincided with the transition of life from the calcium-rich marine environment to the terrestrial or the aquatic environments …

Effects of a hops (Humulus lupulus L.) dry extract supplement on self-reported depression, anxiety and stress levels in apparently healthy young adults: a randomized, placebo-controlled, double-blind, crossover pilot study

Ioannis Kyrou, Aimilia Christou, Demosthenes Panagiotakos, Charikleia Stefanaki, Katerina Skenderi, Konstantina Katsana, Constantine Tsigos

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OBJECTIVE: The Humulus lupulus L. plant (hops) is used as a herbal medicinal product for anxiety/mood disorders. Our aim was to study the effects of a hops dry extract on self-reported depression, anxiety and stress levels in young adults. DESIGN: Apparently healthy young adults from our university completed the Depression Anxiety Stress Scale-21 (DASS-21) and those reporting at least mild depression …

Parathyroid carcinoma in multiple endocrine neoplasia type 1. Case report and review of the literature

Carlos del Pozo, Luis García-Pascual, Montserrat Balsells, María-José Barahona, Enrique Veloso, Clarisa González, Jordi Anglada-Barceló

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Parathyroid carcinoma is an infrequent cause of primary hyperparathyroidism. Although hyperparathyroidism in multiple endocrine neoplasia 1 (MEN1) syndrome is the most common manifestation, parathyroid carcinoma is rare. We report a male patient who was diagnosed at 44 years of age with parathyroid carcinoma in the context of MEN1 syndrome coincident …

Pegvisomant-primed growth hormone (GH) stimulation test is useful in identifying true GH deficient children

Giorgio Radetti, Heba H. Elsedfy, Randa Khalaf, Cristina Meazza, Sara Pagani, Mohamed El Kholy, Riccardo Albertini, Anna Maria De Stefano, Antonella Navarra, Annalisa De Silvestri, Mauro Bozzola

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OBJECTIVE: Provocative stimulation tests for growth hormone (GH) assessment have poor reproducibility and can often elicit false positive results in normal children. The aim of our study was to confirm the capability of pegvisomant as an enhancer of GH secretion in unmasking false-positive results in short children (height <-2.0 standard deviation score, SDS) undergoing GH testing ...

Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?

Anna Angelousi, Nikolaos Settas, Fabio R. Faucz, Charalampos Lyssikatos, Martha Quezado, Narjes Nasiri-Ansari, Constantine A. Stratakis, Eva Kassi

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Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor hereditary in 35% of cases. The most common syndromic form is in the context of the multiple endocrine neoplasia type 2 (MEN 2) syndromes in association with other tumors and due to germline RET mutations. We describe a 57-year-old female patient diagnosed with sporadic MTC …

Use of the FRAX calculator with and without bone mineral density in Greek women

Ioannis Ilias, Filio Spanoudi, Eftychia Koukkou, Stamatina C. Nikopoulou

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The creators of the FRAX fracture risk calculator for countries with no national reference values (such as Greece) suggest the use of FRAX from a neighboring country. For Greeks (considered to run a high risk for osteoporotic fractures) …

More on the management of lateral neck ectopic thyroid tissue

Rafael Denadai, Luίs Ricardo Martinhão Souto

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We read with interest the review article by Ibrahim and Fadeyibi and have the following comments regarding the evaluation of lesions in ectopic thyroid. Although the authors point out that fine needle aspiration cytology (FNAC) is important when malignancy is suspected …

45,X/46,XY mosaicism: a cause of short stature in males

Alexandra Efthymiadou, Eunice G. Stefanou, Dionisios Chrysis

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45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals …