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Open access

Volha Zhukouskaya, Anya Rothenbuhler, Annamaria Al Colao, Carolina Di Somma, Peter Kamenický, Séverine Trabado, Dominique Prie, Christelle Audrain, Anna Barosi, Christèle Kyheng, Anne-Sophie Lambert and Agnès Linglart

Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate levels. Scientific evidence points to link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH.

Patients/methods: We studied 172 XLH-children 5-20 years of age (113 girls /59 boys). Anthropometric parameters (weight, height, BMI) were collected at birth and during follow-up at mean ages of 5.3-8.2-11.3-15.9 years (groups 1-2-3-4, respectively). In each group, subjects were classified based on International Obesity Taskforce (IOTF) cut off values of BMI for age and sex as overweight or obese (IOTF 25-30 or ≥30 kg/m2, respectively).

Results: In each age-group, almost 1/3 of XLH-patients were classified as overweight or obese (29.4%, 28.7%, 27.5% and 36.7% in groups 1-2-3-4, respectively). Children without a XLH-family history had higher BMI-IOTF at every point of follow-up, compared to those with positive XLH-family history. Similarly, higher BMI-IOTF was significantly associated with treatment duration (23.3±4.4 vs 23.8±3.8 vs 25.2±4.5 kg/m2, for subjects with treatment duration of <5, 5-10 and >10 years, respectively, p for trend=0.025). Multiple regression analysis confirmed an association of treatment duration and lack of XLH-family history with higher BMI-IOTF.

Conclusion: 1/3 of XLH-children have phenotypically unfavourable metabolic profile expressed as increased prevalence of overweight/obesity. Both the lack of XLH family history and duration of treatment increase the risk of higher BMI-IOTF. BMI should be carefully monitored in children and later adults, with XLH.

Open access

Aleksandra Kukulska, Jolanta Krajewska, Zofia Kolosza, Ewa Paliczka-Cieslik, Aleksandra Kropinska, Agnieszka Pawlaczek, Zbigniew Puch, Kornelia Ficek, Teresa Lisik, Dorota Sygula, Zbigniew Wygoda, Jozef Roskosz, Jerzy Wydmanski and Barbara Jarzab

The value of postoperative radiotherapy in the treatment of medullary thyroid carcinoma (MTC) has not been unequivocally demonstrated. Therefore our study aimed to answer the question of whether adjuvant radiotherapy showed any impact on the risk of local recurrence and whether there were any differences in response to radiotherapy between hereditary and sporadic MTC.


A retrospective analysis involved 254 MTC patients, among them 73 patients with a hereditary disease. Two hundred and twenty-four patients, including 43 persons at a high risk of local relapse, underwent only initial surgery; 18 other patients were operated due to MTC recurrences, whereas the remaining 12 patients had cytoreductive procedure or were not amenable for surgery. Radiotherapy was carried out in 132 patients. One hundred and twenty patients underwent adjuvant radiotherapy, among them 102 patients after initial surgery. The median follow-up was 10 years (range 0.5–29 years).


Local recurrence occurred in 107/254 patients, among them in 63 subjects after prior radiotherapy. The frequency of relapse showed significantly increasing trend toward higher MTC stages (P <0.001). More relapses occurred in patients with lymph node metastases present at MTC onset. Adjuvant radiotherapy was associated with a lower risk of nodal recurrence only in high-risk patients, particularly if lymph node metastases were present at MTC diagnosis. The differences between hereditary and sporadic subgroups were not significant.


Adjuvant radiotherapy has a limited importance in MTC treatment. It should be considered in high-risk MTC patients. The presence of RET mutation does not influence the response to radiation.

Open access

Kunal Thakkar, Swati Jadhav, Rajeev Kasaliwal, Saba Samad Memon, Virendra A Patil, Puja Thadani, Nilesh Keshavrao Lomte, Shilpa S Sankhe, Atul Goel, Sridhar Epari, Naina Goel, Anurag Ranjan Lila, Nalini Shah and Tushar Ramkrishna Bandgar

Background: Most common incidentally detected sellar-suprasellar region (SSR) masses are pituitary adenomas, followed by craniopharyngioma, rathke’s cleft cyst, hypophysitis, and meningioma. Besides these, certain unusual SSR lesions sometimes present as diagnostic challenges, where diagnosis is often made post-operatively on histopathology, the pre-operative suspicion of which might have influenced the management strategies. Series describing such masses are few.

Objective: To present clinical, biochemical and radiologic characteristics and management outcomes of rare SSR lesions other than pituitary adenomas, craniopharyngioma, rathke’s cleft cyst, hypophysitis, and meningioma.

Methods: Retrospective case reviews of patients with uncommon SSR masses (from January 2006 to December 2016)

Results: Our series consisted of ten patients, five with neoplastic and five with non-neoplastic lesions. Neoplastic masses included granular cell tumor (n=2), astrocytoma (n=1), malignant peripheral nerve sheath tumor (MPNST, n=1), and metastasis from occult papillary carcinoma of thyroid (n=1), while non-neoplastic masses were aspergillus abscess (n=1), sterile abscess (n=1), and tubercular abscess (n=1), aneurysm of left internal carotid artery (n=1) and ruptured dermoid cyst (n=1). All patients (except one) presented with headache and/or visual disturbance. Only one patient had acromegaly while most others had hypopituitarism. We describe detailed MRI characteristics of each of the lesion.

Conclusion: Most of the rare SSR masses present with symptoms of mass effects and hypopituitarism. Except for some non-neoplastic lesions like sellar abscesses, aneurysms and dermoid cysts which have some specific imaging characteristics that can provide clue to pre-operative diagnosis, most of the other neoplastic masses have overlapping radiological features and pre-operative suspicion remains difficult.

Open access

Carla Scaroni, Nora Maria Elvira Albiger, Serena Palmieri, Davide Iacuniello, Chiara Graziadio, Luca Damiani, Maria Luisa Zilio, Antonio Stigliano, Annamaria Al Colao and Rosario Pivonello

The distinction between pseudo-Cushing's states (PCS) and Cushing’s syndrome (CS) poses a significant clinical challenge even for expert endocrinologists. A patient’s clinical history can sometimes help to distinguish between them (as in the case of alcoholic individuals), but the overlap in clinical and laboratory findings makes it difficult to arrive at a definitive diagnosis. We aim to describe the most common situations that can give rise to a condition resembling overt endogenous hypercortisolism, and try to answer questions that physicians often face in clinical practice. It is important to know the relative prevalence of these different situations, bearing in mind that most of the conditions generating PCS are relatively common (such as metabolic syndrome and polycystic ovary syndrome), while CS is rare in the general population. Physicians should consider CS in the presence of additional features. Appropriate treatment of underlying conditions is essential as it can reverse the hormonal abnormalities associated with PCS. Close surveillance and a thorough assessment of a patient’s hormone status will ultimately orient the diagnosis and treatment options over time.

Open access

Mette H Viuff and Claus H Gravholt

In this commentary, we discuss the state of affairs concerning the clinical care of females with Turner syndrome (TS) in Germany. TS is a rare disease and new international guidelines describe an appropriate setup for optimal clinical care. Several countries have implemented a program with centralized adult Turner syndrome clinics, which are now found in France, Denmark, the Netherlands, Sweden, parts of England and possibly other countries, but hitherto not in Germany. Such an approach should ensure the availability of high quality multi-disciplinary care for all women with TS to be treated and to detect all the conditions that have been associated with TS, which typically appear at odd times during the lifetime of a female with TS. Care should be offered at no added cost for the patient, and treatment with relevant drugs should be available at reasonable cost for the individual patient. Currently, it is quite problematic that many female sex hormone preparations are not available at low cost in a number of countries. Additional problems include supply chain issue which lead to patients not being able to buy their usual drug for a certain period of time. We think it is timely that countries improve the care for individuals with rare conditions, such as TS.

Open access

Bettina Winzeler, Michelle Steinmetz, Julie Refardt, Nicole Cesana-Nigro, Milica Popovic, Wiebke Kristin Fenske and Mirjam Christ-Crain

Objective: The syndrome of inappropriate antidiuresis (SIAD) is a common condition in hospitalized patients. It is crucial to establish the cause of SIAD especially in order to exclude underlying malignancy. As malignant SIAD may be due to a paraneoplastic synthesis of arginine vasopressin, we hypothesized that its stable surrogate marker copeptin can be used as a diagnostic tool to differentiate between malignant and non-malignant SIAD.

Methods: Prospective observational study. We analyzed data from 146 SIAD patients of two different cohorts from Switzerland and Germany. Patients were included while presenting at the emergency department and underwent a standardized diagnostic assessment including the measurement of copeptin levels.

Results: 39 patients (median age: 63 years, 51% female) were diagnosed with cancer-related and 107 (median age: 73 years, 68% female) with non-malignant SIAD. Serum sodium levels were higher in cancer-related versus non-malignant SIAD: median (IQR) 124 mmol/l (120; 127) versus 120 mmol/l (117; 123) (P<0.001). Median (IQR) copeptin levels of patients with cancer-related SIAD were 11.1 pmol/l (5.2; 37.1) and 10.5 pmol/l (5.2; 25.2) with non-malignant SIAD (P = 0.38). Among different cancer entities, patients suffering from small cell lung cancer showed the highest copeptin values, but overall no significant difference in copeptin levels between cancer types was observed (P = 0.46).

Conclusions: Copeptin levels are similar in cancer-related and non-malignant SIAD. Copeptin seems, therefore, not suitable as a marker of malignant disease in SIAD.

Open access

E R Polina, F M Oliveira, R C Sbruzzi, D Crispim, L H Canani and K G Santos

Circulating microRNA-155 (miR-155) is associated with type 2 diabetes mellitus (T2DM) and the rs767649 polymorphism in the pre-MIR155 gene is associated with miR-155 expression. However, their relationship with diabetic retinopathy (DR) is still unknown. Therefore, the aim of this case-control study was to test the hypothesis that the rs767649 polymorphism in the pre-MIR155 gene is associated with DR in South Brazilians with T2DM. We also evaluated the association of plasma levels of miR-155 with DR and the rs767649 polymorphism in a subgroup of subjects. The rs767649 polymorphism was genotyped in 139 blood donors and 546 T2DM patients (244 had no DR, 161 had non-proliferative DR and 141 had proliferative DR). miR-155 expression was quantified in 20 blood donors and 60 T2DM patients (20 from each group). Among T2DM patients, the carriership of the A allele and the A allele were more frequent in subjects with DR than in those without it (P < 0.05), and the A allele was independently associated with an increased risk of DR (adjusted OR = 2.12, 95% CI = 1.12–4.01). The plasma levels of miR-155 were lower in T2DM patients than in blood donors (P < 0.001). However, the miR-155 levels did not differ according to the presence and severity of DR or according to rs767649 genotypes among T2DM patients. These findings support that the rs767649 polymorphism in the pre-MIR155 gene is associated with DR in T2DM and that the miR-155 plasma levels might be associated with T2DM. Additional studies are needed to further investigate their clinical significance in DR and T2DM.

Open access

Charlotte Janus, Dorte Vistisen, Hanan Amadid, Daniel R Witte, Torsten Lauritzen, Søren Brage, Anne-Louise Bjerregaard, Torben Hansen, Jens J Holst, Marit E Jørgensen, Oluf Pedersen, Kristine Færch and Signe S Torekov


The hormone glucagon-like peptide-1 (GLP-1) decreases blood glucose and appetite. Greater physical activity (PA) is associated with lower incidence of type 2 diabetes. While acute exercise may increase glucose-induced response of GLP-1, it is unknown how habitual PA affects GLP-1 secretion. We hypothesised that habitual PA associates with greater glucose-induced GLP-1 responses in overweight individuals.


Cross-sectional analysis of habitual PA levels and GLP-1 concentrations in 1326 individuals (mean (s.d.) age 66 (7) years, BMI 27.1 (4.5) kg/m2) from the ADDITION-PRO cohort. Fasting and oral glucose-stimulated GLP-1 responses were measured using validated radioimmunoassay. PA was measured using 7-day combined accelerometry and heart rate monitoring. From this, energy expenditure (PAEE; kJ/kg/day) and fractions of time spent in activity intensities (h/day) were calculated. Cardiorespiratory fitness (CRF; mL O2/kg/min) was calculated using step tests. Age-, BMI- and insulin sensitivity-adjusted associations between PA and GLP-1, stratified by sex, were evaluated by linear regression analysis.


In 703 men, fasting GLP-1 concentrations were 20% lower (95% CI: −33; −3%, P = 0.02) for every hour of moderate-intensity PA performed. Higher CRF and PAEE were associated with 1–2% lower fasting GLP-1 (P = 0.01). For every hour of moderate-intensity PA, the glucose-stimulated GLP-1 response was 16% greater at peak 30 min (1; 33%, P rAUC0-30 = 0.04) and 20% greater at full response (3; 40%, P rAUC0-120 = 0.02). No associations were found in women who performed PA 22 min/day vs 32 min/day for men.


Moderate-intensity PA is associated with lower fasting and greater glucose-induced GLP-1 responses in overweight men, possibly contributing to improved glucose and appetite regulation with increased habitual PA.

Open access

Laurien Zijlstra, Daan van Velzen, Suat Simsek, S. Mooijaart, Marjolijn van Buren, David Stott, Ian Ford, Wouter J Jukema and S Trompet

Objective: Thyroid hormones have been implicated to play a role in cardiovascular disease, along with studies linking thyroid hormone to kidney function. The aim of this study is to investigate whether kidney function modifies the association of subclinical thyroid dysfunction and the risk of cardiovascular outcomes.

Methods: Participants with normal fT4 were classified, based on TSH both at inclusion and 6 months, into 3 groups using data of 4864 patients of the PROspective Study of Pravastatin in the Elderly at Risk (PROSPER): subclinical hypothyroidism (TSH>4.5 mIU/L); euthyroidism (TSH=0.45–4.5 mIU/L); and subclinical hyperthyroidism (TSH<0.45 mIU/L). Strata of kidney function were made based on estimated glomerular filtration rate into 3 clinically relevant groups: <45; 45–60; and >60ml/min/1.73m2. The primary endpoint consists of death from coronary heart disease, non-fatal myocardial infarction and (non)fatal stroke.

Results: Mean age was 75.3 years and 49.0% patients were male. Mean follow-up was 3.2 years. No statistically significant relationship was found between subclinical thyroid dysfunction and primary endpoint with adjusted hazard ratios of 0.51 (0.24-1.07) comparing subclinical hyperthyroidism and 0.90 (0.58-1.39) comparing subclinical hypothyroidism with euthyroidism. Neither was this relationship present in any of the strata of kidney function, nor did kidney function interact with subclinical thyroid dysfunction in the association with primary endpoint (p-interaction=0.602 for subclinical hyperthyroidism and 0.388 for subclinical hypothyroidism).

Conclusions: In this secondary analysis from PROSPER, we found no evidence that the potential association between thyroid hormones and cardiovascular disease is modified by kidney function in older patients with subclinical thyroid dysfunction.

Open access

Simon Chang, Christian Fynbo Christiansen, Anders Bojesen, Svend Juul, Anna-Marie Bloch Münster and Claus H. Gravholt

Objectives: Klinefelter syndrome (KS), 47,XXY, can be viewed as a disease model for investigating the risk of thrombosis in male hypogonadism and the subsequent risk related to testosterone treatment. We describe rates of thrombotic risk factors, thrombosis and thrombosis mortality in KS and the association with testosterone treatment.

Methods: National registry-based matched cohort study with follow-up from 1995-2016 set in Denmark. 1155 men with KS were each matched by year and month of birth to 100 men from the background population. First thrombotic events and thrombosis mortality was evaluated by event rates and hazard ratios (HR) and applying testosterone treatment as a time-dependent covariate.

Results: The KS cohort had higher incidence of venous thromboembolism relative to the comparison cohort (HR, 3.95; 95 % CI, 2.83-5.52). Total thrombotic deaths were increased in KS (HR, 1.76; 95 % CI, 1.18-2.62), and all-cause mortality was increased in KS following arterial thrombosis (HR 1.73; 95 % CI 1.22-2.47). Only 48.7% of men with KS redeemed prescriptions for testosterone. Untreated men with KS were on average born twelve years before those treated, and the majority of untreated men with KS with available biochemistry were hypogonadal. Testosterone treatment in KS was associated with a non-significant decrease in venous thromboembolism and thrombotic deaths.

Conclusion: Thrombosis and thrombotic deaths are increased in KS. Only half of men with KS ever received testosterone treatment, despite overt hypogonadism in the non-treated. Testosterone treatment in Klinefelter syndrome was insignificantly associated with lower incidence rates of venous thrombosis and thrombotic deaths.