Volume 2017 (2017): Issue 1 (Feb 2017)

Effective localization in tumor-induced osteomalacia using ⁶⁸Ga-DOTATOC-PET/CT, venous sampling and 3T-MRI

Author(s): Shintaro Kawai, Hiroyuki Ariyasu, Yasushi Furukawa, Reika Yamamoto, Shinsuke Uraki, Ken Takeshima, Kenji Warigaya, Yuji Nakamoto, and Takashi Akamizu

Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly

Author(s): Ruth Mangupli, Adrian F Daly, Elvia Cuauro, Paul Camperos, Jaime Krivoy, and Albert Beckers

Gonadotrophin abnormalities in an infant with Lowe syndrome

Author(s): Bronwen E Warner, Carol D Inward, and Christine P Burren

An unusual case of adult-onset multi-systemic Langerhans cell histiocytosis with perianal and incident thyroid involvement

Author(s): Ozen Oz Gul, Pinar Sisman, Soner Cander, Erdem Gozden, Meral Kurt, Ozlem Saraydaroglu, Turkay Kirdak, Canan Ersoy, and Erdinc Erturk

The management of metastatic radioiodine-refractory differentiated thyroid cancer requires an integrated approach including both directed and systemic therapies

Author(s): Shamil D Cooray and Duncan J Topliss

PROP1 gene mutations in a 36-year-old female presenting with psychosis

Author(s): Durgesh Prasad Chaudhary, Tshristi Rijal, Kunal Kishor Jha, and Harpreet Saluja

A ‘silent’ skull metastatic follicular thyroid carcinoma mimicking as a benign scalp tumor in a pregnant woman

Author(s): Tsung-Chun Huang, Yu-Kai Cheng, Tsung-Wei Chen, Yung-Chang Hsu, En-Wei Liu, and Hsin-Han Chen

Diagnostic challenges and management of a patient with acromegaly due to ectopic growth hormone-releasing hormone secretion from a bronchial carcinoid tumour

Author(s): Nikolaos Kyriakakis, Jacqueline Trouillas, Mary N Dang, Julie Lynch, Paul Belchetz, Márta Korbonits, and Robert D Murray

Periodontal profile and radiographic characterization of the jaws in a patient with autosomal dominant osteopetrosis

Author(s): Davi da Silva Barbirato, Mariana Fampa Fogacci, Mariana Arruda, Monique Oliveira Rodrigues, and Leonardo Vieira Neto

Diabetic ketoacidosis: a challenging diabetes phenotype

Author(s): Cliona Small, Aoife M Egan, El Muntasir Elhadi, Michael W O’Reilly, Aine Cunningham, and Francis M Finucane

ACTH-secreting medullary thyroid cancer: a case series

Author(s): Ayanthi A Wijewardene, Sarah J Glastras, Diana L Learoyd, Bruce G Robinson, and Venessa H M Tsang

Diagnosis and treatment challenges of parathyroid carcinoma in a 27-year-old woman with multiple lung metastases

Author(s): Liudmila Rozhinskaya, Ekaterina Pigarova, Ekaterina Sabanova, Elizaveta Mamedova, Iya Voronkova, Julia Krupinova, Larisa Dzeranova, Anatoly Tiulpakov, Vera Gorbunova, Nadezhda Orel, Artur Zalian, Galina Melnichenko, and Ivan Dedov

Successful treatment of thyroid storm presenting as recurrent cardiac arrest and subsequent multiorgan failure by continuous renal replacement therapy

Author(s): Han Soo Park, Su Kyoung Kwon, and Ye Na Kim

Takotsubo cardiomyopathy in amiodarone-induced hyperthyroidism

Author(s): Ismael Capel, Elisabet Tasa-Vinyals, Albert Cano-Palomares, Irene Bergés-Raso, Lara Albert, Mercedes Rigla, and Assumpta Caixàs

Using kisspeptin to assess GnRH function in an unusual case of primary amenorrhoea

Author(s): S Vimalesvaran, S Narayanaswamy, L Yang, J K Prague, A Buckley, A D Miras, S Franks, K Meeran, and W S Dhillo

Severe symptomatic hyponatremia associated with the use of polyethylene glycol-based bowel preparation

Author(s): Navira Samad and Ian Fraser

De novo disruption of promoter and exon 1 of STAR gene reveals essential role for gonadal development

Author(s): Anil Piya, Jasmeet Kaur, Alan M Rice, and Himangshu S Bose

Case of diabetic ketoacidosis as an initial presentation of Cushing’s syndrome

Author(s): Runa Acharya and Udaya M Kabadi

Congenital hyperinsulinism and Poland syndrome in association with 10p13–14 duplication

Author(s): Dinesh Giri, Prashant Patil, Rachel Hart, Mohammed Didi, and Senthil Senniappan

Octreotide therapy and restricted fetal growth: pregnancy in familial hyperinsulinemic hypoglycemia

Author(s): Marianne Geilswijk, Lise Lotte Andersen, Morten Frost, Klaus Brusgaard, Henning Beck-Nielsen, Anja Lisbeth Frederiksen, and Dorte Møller Jensen

Alterations in corneal nerves following crack cocaine use mimic diabetes-induced nerve damage

Author(s): Whitney L Stuard, Bryan K Gallerson, and Danielle M Robertson

Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene

Author(s): María Clemente, Alejandro Vargas, Gema Ariceta, Rosa Martínez, Ariadna Campos, and Diego Yeste

ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)

Author(s): Teresa Rego, Fernando Fonseca, Stéphanie Espiard, Karine Perlemoine, Jérôme Bertherat, and Ana Agapito

Efficacy of lenvatinib in a patient with anaplastic thyroid cancer

Author(s): Kazuyuki Oishi, Daisuke Takabatake, and Yuichi Shibuya

Efficacy of pasireotide in controlling severe hypercortisolism until cardiac transplantation

Author(s): Roberto Attanasio, Liana Cortesi, Daniela Gianola, Claudia Vettori, Fulvio Sileo, and Roberto Trevisan

Mid-life extra-haematopoetic manifestations of Diamond–Blackfan anaemia

Author(s): Christopher Muir, Anthony Dodds, and Katherine Samaras

Cerebral salt wasting following traumatic brain injury

Author(s): Peter Taylor, Sasan Dehbozorgi, Arshiya Tabasum, Anna Scholz, Harsh Bhatt, Philippa Stewart, Pranav Kumar, Mohd S Draman, Alastair Watt, Aled Rees, Caroline Hayhurst, and Stephen Davies

Acute mesenteric ischemia and hepatic infarction after treatment of ectopic Cushing’s syndrome

Author(s): Shinobu Takayasu, Shingo Murasawa, Satoshi Yamagata, Kazunori Kageyama, Takeshi Nigawara, Yutaka Watanuki, Daisuke Kimura, Takao Tsushima, Yoshiyuki Sakamoto, Kenichi Hakamada, Ken Terui, and Makoto Daimon

Endoscopic ultrasound-guided ethanol ablation therapy for pancreatic insulinoma: an unusual strategy

Author(s): Adriana de Sousa Lages, Isabel Paiva, Patrícia Oliveira, Francisco Portela, and Francisco Carrilho

Delayed dyskinesia and prolonged psychosis in a patient presenting with profound hyponatraemia

Author(s): Victoria John, Philip Evans, and Atul Kalhan

Clinical course of pituitary function and image in IgG4-related hypophysitis

Author(s): Takatoshi Anno, Fumiko Kawasaki, Maiko Takai, Ryo Shigemoto, Yuki Kan, Hideaki Kaneto, Tomoatsu Mune, Kohei Kaku, and Niro Okimoto

Silent Crooke’s cell corticotroph adenoma of the pituitary gland presenting as delayed puberty

Author(s): Dinesh Giri, Federico Roncaroli, Ajay Sinha, Mohammed Didi, and Senthil Senniappan

Recurrent insulinoma in a 10-year-old boy with Down's syndrome

Author(s): Noman Ahmad, Abdulmonem Mohammed Almutawa, Mohamed Ziyad Abubacker, Hossam Ahmed Elzeftawy, and Osama Abdullah Bawazir

Macroprolactinoma appearing after resolution of hydrocephalus

Author(s): Oscar D Bruno, Ricardo Fernández Pisani, Gabriel Isaac, and Armando Basso

Fluticasone furoate induced iatrogenic Cushing syndrome in a pediatric patient receiving anti-retroviral therapy

Author(s): S A A van den Berg, N E van ‘t Veer, J M A Emmen, and R H T van Beek

Thyrotoxicosis leading to adrenal crises reveals primary bilateral adrenal lymphoma

Author(s): Catarina Roque, Ricardo Fonseca, Carlos Tavares Bello, Carlos Vasconcelos, António Galzerano, and Sância Ramos

Pasireotide in an insulin-requiring diabetic acromegalic patient without worsening of hyperglycemia

Author(s): Murray B Gordon and Kellie L Spiller

Pro-IGF2-induced hypoglycaemia associated with hepatocellular carcinoma

Author(s): S A A van den Berg and C G Krol

Selective blood sampling for FGF-23 in tumor-induced osteomalacia

Author(s): Hans-Christof Schober, Christian Kneitz, Franziska Fieber, Kathrin Hesse, and Henry Schroeder

GAD antibody-associated limbic encephalitis in a young woman with APECED

Author(s): Anna Kopczak, Adrian-Minh Schumacher, Sandra Nischwitz, Tania Kümpfel, Günter K Stalla, and Matthias K Auer

Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma

Author(s): Kohei Saitoh, Takako Yonemoto, Takeshi Usui, Kazuhiro Takekoshi, Makoto Suzuki, Yoshiharu Nakashima, Koji Yoshimura, Rieko Kosugi, Tatsuo Ogawa, and Tatsuhide Inoue

Concurrent intrathyroidal thymus and parathyroid in a patient with papillary thyroid carcinoma: a challenging diagnosis

Author(s): Georgios Velimezis, Argyrios Ioannidis, Sotirios Apostolakis, Maria Chorti, Charalampos Avramidis, and Evripidis Papachristou

Anorexia–cachexia syndrome-like hypothalamic neuroendocrine dysfunction in a patient with a papillary craniopharyngioma

Author(s): Lourdes Balcázar-Hernández, Guadalupe Vargas-Ortega, Yelitza Valverde-García, Victoria Mendoza-Zubieta, and Baldomero González-Virla

Euthyroid athyroxinemia – a novel endocrine syndrome

Author(s): Nicholas Woodhouse, Fatima Bahowairath, and Omayma Elshafie

Diabetes insipidus and hypopituitarism in HIV: an unexpected cause

Author(s): Carlos Tavares Bello, Francisco Sousa Santos, João Sequeira Duarte, and Carlos Vasconcelos

Pheochromocytomatosis associated with a novel TMEM127 mutation

Author(s): Run Yu, Danielle Sharaga, Christopher Donner, M Fernando Palma Diaz, Masha J Livhits, and Michael W Yeh

Hypersecretion of ACTH and PRL from pituitary adenoma in MEN1, adequately managed by medical therapy

Author(s): Shinsuke Uraki, Hiroyuki Ariyasu, Asako Doi, Hiroto Furuta, Masahiro Nishi, Takeshi Usui, Hiroki Yamaue, and Takashi Akamizu

Pachydermoperiostosis: a rare mimicker of acromegaly

Author(s): Noor Rafhati Adyani Abdullah, Wong Lok Chin Jason, and Azraai Bahari Nasruddin

Endemic goitre and hypothyroidism in an adult female patient dependent on total parenteral nutrition

Author(s): S Pearson, C Donnellan, L Turner, E Noble, K Seejore, and R D Murray

Primary cutaneous B-cell lymphoma and chronic leg ulcers in a patient with type 2 diabetes

Author(s): Alessandro Mantovani, Fabrizia Perrone, Vincenzo Stoico, Isabella Pichiri, Laura Salvotelli, Ilaria Teobaldi, Massimiliano Bruti, Michela Conti, Luca Cima, Albino Eccher, and Enzo Bonora