Dual-release hydrocortisone and its benefits on cognitive function and quality of sleep
ConclusionPatients with PAI reached better results in several cognitive functions and had a worse quality of sleep than patients with SAI. Our data suggest a positive impact of DR-HC on quality of sleep. DR-HC may be better for executive functioning. (Source: Endocrine)
Source: Endocrine - February 24, 2021 Category: Endocrinology Source Type: research

Patient ’s view on better care
(Source: Endocrine)
Source: Endocrine - February 24, 2021 Category: Endocrinology Source Type: research

Rare endocrine disease: Still a long and a winding road
(Source: Endocrine)
Source: Endocrine - February 23, 2021 Category: Endocrinology Source Type: research

Development of a risk prediction model for early discrimination between permanent and transient congenital hypothyroidism
AbstractObjectiveTo develop a risk prediction model for early discrimination between transient and permanent congenital hypothyroidism (CH).Design and settingIn a retrospective cohort, 1047 confirmed CH neonates, from 15 randomly selected provinces in Iran, were entered to the study. Clinical and biochemical information of transient and permanent cases, distinct at the age of 3 years were retrospectively gathered.ResultsAmong CH neonates, the overall prevalence of permanent CH was 57.1%. Using forward stepwise multivariable logistic regression analysis, confirmatory venous TSH, total T4  
Source: Endocrine - February 22, 2021 Category: Endocrinology Source Type: research

Cardiovascular, anthropometric, metabolic and hormonal profiling of normotensive women with polycystic ovary syndrome with and without biochemical hyperandrogenism
AbstractPurposeWomen with polycystic ovary syndrome (PCOS) present with or without biochemical hyperandrogenism (HAPCOS or non-HAPCOS, respectively). Cardiometabolic and hormonal abnormalities have been reported in women with PCOS, particularly those with hypertension. However, no direct comparison between normotensive (blood pressure
Source: Endocrine - February 22, 2021 Category: Endocrinology Source Type: research

Correction to: Clinical characteristics and thyroid hormone dynamics of thyrotropin-secreting pituitary adenomas at a single institution
A Correction to this paper has been published: https://doi.org/10.1007/s12020-021-02614-3 (Source: Endocrine)
Source: Endocrine - February 20, 2021 Category: Endocrinology Source Type: research

Access to patient oriented information —a baseline Endo-ERN survey among patients with rare endocrine disorders
AbstractAimTo perform a baseline survey on condition-specific information access among patients/parents/caregivers with rare endocrine disorders (RD) in Europe.MethodsElectronic invitation to participate in a survey (19 questions) was sent to 120 patient advocacy groups (PAGs), and further distributed to 32 European countries.ResultsA total of 1138 respondents from 22 countries (74% women), aged between 1 year (parents) and 70 years, participated. The Netherlands, France, Germany, Italy and France had highest participation rates. All Main Thematic Groups (MTGs) were represented; the adrenal (32%), pituitary (26%) and thyro...
Source: Endocrine - February 18, 2021 Category: Endocrinology Source Type: research

Diagnosis of sarcoidosis in a patient with differentiated thyroid cancer and sudden rise of anti-thyroglobulin antibodies during follow-up
(Source: Endocrine)
Source: Endocrine - February 18, 2021 Category: Endocrinology Source Type: research

Update on primary bilateral macronodular adrenal hyperplasia (PBMAH)
AbstractPrimary bilateral macronodular adrenal hyperplasia (PBMAH), characterized by bilateral benign adrenal macronodules (>1  cm) potentially responsible for variable levels of cortisol excess, is a rare and heterogeneous disease. However, its frequency increases due to incidentally diagnosed cases on abdominal imaging carried out for reasons other than suspected adrenal disease. Mostly isolated, it can also be associat ed with dominantly inherited genetic conditions in rare cases. Considering the bilateral nature of adrenal involvement and the description of familial cases, the search of a genetic predispositi...
Source: Endocrine - February 15, 2021 Category: Endocrinology Source Type: research

Phytochemicals in thyroid cancer: analysis of the preclinical studies
ConclusionsIn particular, we describe their antiproliferative properties or ability to re-induce iodine retention, thus supporting their potential use as single agents or adjuvants in radioiodine-resistant thyroid cancer treatment. (Source: Endocrine)
Source: Endocrine - February 15, 2021 Category: Endocrinology Source Type: research

Association of daily step count and serum testosterone among men in the United States
ConclusionsPatients with the lowest daily step counts had higher odds of being hypogonadal. The current work supports a possible association between daily steps, total testosterone, and hypogonadism for men in the US. (Source: Endocrine)
Source: Endocrine - February 12, 2021 Category: Endocrinology Source Type: research

Association between albuminuria and thyroid function in patients with chronic kidney disease
AbstractPurposeThe relationship between proteinuria and thyroid function remains controversial in patients with chronic kidney disease (CKD). We prospectively investigated the association between kidney and thyroid function in thyroid antibody-negative patients through all CKD stages.MethodsWe enrolled 184 nondialysis patients (mean age: 63.1  ± 16.9 years) without previous thyroid disease or thyroid-specific antibodies. Kidney function was assessed by estimating the glomerular filtration rate (eGFR) classified according KDIGO (CKD G1–5). Kidney damage was assessed by albuminuria (albumin-to-crea...
Source: Endocrine - February 11, 2021 Category: Endocrinology Source Type: research

Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes
AbstractIntroductionAlthough current guidelines prefer the use of targeted testing or small-scale gene panels for identification of genetic susceptibility of hereditary endocrine tumour syndromes, next generation sequencing based strategies have been widely introduced into every day clinical practice. The application of next generation sequencing allows rapid testing of multiple genes in a cost effective manner. Increasing knowledge about these techniques and the demand from health care providers and society, shift the molecular genetic testing towards using high-throughput approaches.PurposeIn this expert opinion, the aut...
Source: Endocrine - February 11, 2021 Category: Endocrinology Source Type: research

High thyroglobulin and negative whole-body scan: no long-term benefit of empiric radioiodine therapy
ConclusionsEmpiric RAI treatment was not associated with better long-term ATA response to therapy status or overall survival. (Source: Endocrine)
Source: Endocrine - February 11, 2021 Category: Endocrinology Source Type: research

Alstr öm syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
ConclusionManaging a rare disease requires not only medical care but also a support network including patient associations. (Source: Endocrine)
Source: Endocrine - February 10, 2021 Category: Endocrinology Source Type: research

True hyperprolactinemia in men without visible pituitary adenoma
ConclusionsMen with symptomatic hyperprolactinemia may rarely present with normal pituitary imaging. Medical treatment can lead to hormonal improvement with clinical benefit. (Source: Endocrine)
Source: Endocrine - February 10, 2021 Category: Endocrinology Source Type: research

Use of SGLT2 inhibitors and occurrence of noninfectious respiratory disorders: a meta-analysis of large randomized trials of SGLT2 inhibitors
ConclusionsSGLT2 inhibitors can significantly reduce the occurrence of acute pulmonary oedema, asthma, and sleep apnoea syndrome; and produce the reduced trends in the risks of COPD and pulmonary hypertension. These findings will prompt further investigation on SGLT2 inhibitors for primary and secondary prevention of various respiratory disorders. (Source: Endocrine)
Source: Endocrine - February 9, 2021 Category: Endocrinology Source Type: research

The forgotten confounding variable of the very-low-caloric intervention in the ketogenic diet
(Source: Endocrine)
Source: Endocrine - February 9, 2021 Category: Endocrinology Source Type: research

An inverted U-shaped relationship between parathyroid hormone and body weight, body mass index, body fat
AbstractPurposeTo investigate the relationship between parathyroid hormone (PTH) levels and body weight, body mass index (BMI), lipid profiles, and fat distribution in subjects with primary hyperparathyroidism (PHPT) and controls.MethodsThis was a cross-sectional study in 192 patients with PHPT and 202 controls. Serum concentrations of calcium, 25-hydroxyvitamin D (25(OH)D), PTH, lipids profiles, and other hormones were quantified. Bone mineral density was assessed by dual-energy X-ray absorptiometry. Fat distribution evaluation utilizing quantitative computed tomography was conducted in another 66 patients with PHPT and 1...
Source: Endocrine - February 6, 2021 Category: Endocrinology Source Type: research

Immunotherapeutics at the spearhead: current status in targeting neuroendocrine neoplasms
ConclusionImmunotherapeutics are gaining a post in the field of NENs in cases progressing during the course of the disease, dictating urgently the identification of biomarkers that will enable selection of NEN patients who may benefit from this treatment. (Source: Endocrine)
Source: Endocrine - February 5, 2021 Category: Endocrinology Source Type: research

EndoERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases
Conclusion: Diagnostic delay in RED is still unsatisfactory in Europe, as well as specific needs impacting QoL. (Source: Endocrine)
Source: Endocrine - February 5, 2021 Category: Endocrinology Source Type: research

Hypercalcemia during pregnancy: management and outcomes for mother and child
AbstractDiagnosing and treating hypercalcemia during pregnancy can be challenging due to both the physiological changes in calcium homeostasis and the underlying cause for the hypercalcemia. During pregnancy and lactation there is increased mobilization of calcium in the mother to meet the fetus ’ calcium requirements. Here we discuss the diagnostic challenges, management, and patient perspective of hypercalcemia during pregnancy in two particular cases and in other rare conditions causing hypercalcemia. (Source: Endocrine)
Source: Endocrine - February 5, 2021 Category: Endocrinology Source Type: research

Cortisol circadian rhythm and jet-lag syndrome: evaluation of salivary cortisol rhythm in a group of eastward travelers
AbstractPurposeThe activity of the hypothalamus –pituitary–adrenal axis plays a crucial role as an endogenous stress-reactive system. Lifestyle and work often interfere with the endogenous circadian rhythms and can modify the physiological patterns of stress-hormones secretion, including cortisol. We evaluated the cortisol circadian rhythm in the “jet-lag syndrome” that is the most known condition associated with the desynchronization of the circadian rhythm.MethodsTo assess the modifications of cortisol secretion after a long-haul flight, we compared baseline and post-travel salivary cortisol rhyth...
Source: Endocrine - February 4, 2021 Category: Endocrinology Source Type: research

The clinical aspects of pituitary tumour genetics
ConclusionThe identification of the causative mutation allows genetic and clinical screening of relatives at risk, resulting in earlier diagnosis, a better therapeutic response and ultimately to better long-term outcomes. (Source: Endocrine)
Source: Endocrine - February 4, 2021 Category: Endocrinology Source Type: research

Chronic hypoparathyroidism and treatment with teriparatide
ConclusionsSince intervention trials evaluating the efficacy and safety of teriparatide in hypoparathyroid patients are not yet available, the routine use of this molecule poses some doubts. (Source: Endocrine)
Source: Endocrine - February 4, 2021 Category: Endocrinology Source Type: research

Patients ’ perception on the quality of care for multiple endocrine neoplasia disorders in Europe: an online survey from a patient support group
ConclusionThe results of this unique Europe-wide, patient-driven survey on QoC of patients with MEN show that ratings for overall QoC were lower than ratings for different aspects of care. This may be because of the complex nature of care for genetic syndromes. Furthermore, patients who connect with patient groups may be deemed “expert patients” whose answers are not representative of the overall MEN patient community. We hope that Endo-ERN can support further education and training for HCPs based on these results. (Source: Endocrine)
Source: Endocrine - February 3, 2021 Category: Endocrinology Source Type: research

Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research
ConclusionsWith this large survey, Endo-ERN gained insight into patients ’ unmet needs in scientific research. Patients prioritized research on ability to work and participation in social activities, though needs differ between the disease groups. Clinical experts should incorporate the results of this survey into the design of future studies on rare endocrine conditio ns. We aim to utilize these results in designing patient-reported outcome measures for the disease areas covered by Endo-ERN. (Source: Endocrine)
Source: Endocrine - February 3, 2021 Category: Endocrinology Source Type: research

A comparative cross-sectional study on sleep quality in patients with a history of differentiated thyroid carcinoma and its correlation with quality of life
AbstractPurposeTo evaluate sleep quality in differentiated thyroid carcinoma (DTC) patients and correlate sleep disturbances with quality of life (QoL).Methods119 DTC patients were enrolled (DTC group). The Pittsburgh Sleep Quality Index (PSQI) and the Insomnia Severity Index (ISI) inventories were administered. The Thyroid-specific Patient-Reported Outcome (ThyPRO) questionnaire, the Billewicz scale (BS) and an ad-hoc visual analogic scale (VAS) were used to measure QoL and subjective therapy-related complaints. The same examinations were conducted in 53 subjects (control group) who had undergone surgery for benign thyroi...
Source: Endocrine - February 3, 2021 Category: Endocrinology Source Type: research

Long-term management of lenvatinib-treated thyroid cancer patients: a real-life experience at a single institution
ConclusionsLong-term lenvatinib treatment is safe and some patients may experience persistent long-term control of the disease. Late treatment-related AEs rarely occurred. Oligoprogressive and slowly progressive disease can be managed without treatment withdrawal as long as there are some clinical benefits. (Source: Endocrine)
Source: Endocrine - February 3, 2021 Category: Endocrinology Source Type: research

CPMS –improving patient care in Europe via virtual case discussions
ConclusionsCPMS is a secure system with many advantages compared to previous ways of consulting experts but also difficulties that need to be overcome with future strategies. By facilitating its use and increasing awareness among all relevant European experts and patients, CPMS can help to make the existing expertise available for all patients with rare (endocrine) conditions throughout Europe as it was intended. (Source: Endocrine)
Source: Endocrine - February 2, 2021 Category: Endocrinology Source Type: research

Rare diseases caused by abnormal calcium sensing and signalling
AbstractThe calcium-sensing receptor (CaSR) provides the major mechanism for the detection of extracellular calcium concentration in several cell types, via the induction of G-protein-coupled signalling. Accordingly, CaSR plays a pivotal role in calcium homeostasis, and theCaSR gene defects are related to diseases characterized by serum calcium level changes. Activating mutations of theCaSR gene cause enhanced sensitivity to extracellular calcium concentration resulting in autosomal dominant hypocalcemia or Bartter-syndrome type V. InactivatingCaSR gene mutations lead to resistance to extracellular calcium. In these cases,...
Source: Endocrine - February 2, 2021 Category: Endocrinology Source Type: research

Prevalence of precocious puberty among Chinese children: a school population-based study
AbstractPurposeTo investigate the prevalence of precocious puberty in school-based population in Zhongshan, Guangdong, China.MethodsWe recruited a total of 4058 students in grades 1 –3 using a multistage stratified cluster random sampling method in a population-based cross-sectional study. We evaluated height, weight, and development of breast and pubic hair in girls, breast development was evaluated by inspection and palpation combined with ultrasound detection for overweigh t and obese girls, and testicular volume and development of pubic hair in boys. We estimated overall, sex-, age, and district-specific prevalen...
Source: Endocrine - February 2, 2021 Category: Endocrinology Source Type: research

Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome
ConclusionENDO-ERN and EURRECA are two EU-funded networks that aim to promote knowledge sharing, education and research on rare endocrine diseases. (Source: Endocrine)
Source: Endocrine - February 1, 2021 Category: Endocrinology Source Type: research

Assessing the health-related management of people with differences of sex development
ConclusionsThe benchmarking process has to be implemented among health care providers for individuals with DSD within the European Reference Networks for Rare Conditions. (Source: Endocrine)
Source: Endocrine - January 30, 2021 Category: Endocrinology Source Type: research

Triggers of thyroid cancer diagnosis: a systematic review and meta-analysis
ConclusionsAbout half of thyroid cancers were found incidentally through the use of imaging studies, in particular neck ultrasound. These incidentally found cancers were mostly small papillary thyroid cancer. These results highlight opportunities for interventions aimed at reducing drivers of overdiagnosis. (Source: Endocrine)
Source: Endocrine - January 29, 2021 Category: Endocrinology Source Type: research

Supporting international networks through platforms for standardised data collection —the European Registries for Rare Endocrine Conditions (EuRRECa) model
AbstractRare endocrine pathology is manifested by either a deficiency or excess of one or more hormones. These conditions can be life-threatening and are almost universally associated with long-term morbidity. Understanding the aetiology of these conditions requires multicentre collaboration and expertise, most often across national boundaries, with the capacity for long-term follow-up. The EuRRECa (European Registries for Rare Endocrine Conditions) project (www.eurreca.net), funded by the EU Health Programme, aims to support the needs of the wider endocrine community by maximising the opportunity for collaboration between...
Source: Endocrine - January 29, 2021 Category: Endocrinology Source Type: research

ENDO-ERN expert opinion on the differential diagnosis of pubertal delay
AbstractThe differential diagnoses of pubertal delay include hypergonadotropic hypogonadism and congenital hypogonadotropic hypogonadism (CHH), as well as constitutional delay of growth and puberty (CDGP). Distinguishing between CDGP and CHH may be challenging, and the scientific community has been struggling to develop diagnostic tests that allow an accurate differential diagnosis. Indeed, an adequate and timely management is critical in order to enable optimal clinical and psychosocial outcomes of the different forms of pubertal delays. In this review, we provide an updated insight on the differential diagnoses of pubert...
Source: Endocrine - January 29, 2021 Category: Endocrinology Source Type: research

Clinical management of patients with genetic obesity during COVID-19 pandemic: position paper of the ESE Growth & amp; Genetic Obesity COVID-19 Study Group and Rare Endo-ERN main thematic group on Growth and Obesity
This article aims to provide guidance on prevention and treatment of COVID-19 in patients with genetic obesity. Key principals of the management of patients with genetic obesity during COVID-19 pandemic for patients that have contracted COVID-19 are to be aware of: possible adrenal insufficiency (e.g., POMC deficiency, PWS); a more severe course in patients with concomitant immunodeficiency (e.g., LEP and LEPR deficiency), although defective leptin signalling could also be protective against the pro-inflammatory phenotype of COVID-19; disease severity being masked by insufficient awareness of symptoms in syndromic obesity ...
Source: Endocrine - January 29, 2021 Category: Endocrinology Source Type: research

Analysis of clinical and genetic characteristics of Chinese children with congenital hyperinsulinemia that is spontaneously relieved
This study aimed to analyze the clinical and genetic characteristics of Chinese children with congenital hyperinsulinemia (CHI) that is spontaneously relieved.MethodsThe patient group comprised 200 children with CHI that were treated at the Beijing Children ’s Hospital from January 2006 to December 2018. The patients were divided into two groups according to their prognosis: the spontaneous remission group (n = 92) and the nonspontaneous remission group (n = 108). The clinical characteristics, pathogenic genes, diagnosis and treatment process, and follow-up data of both groups were analyze...
Source: Endocrine - January 27, 2021 Category: Endocrinology Source Type: research

Testosterone in COVID-19: Friend or Foe?
(Source: Endocrine)
Source: Endocrine - January 25, 2021 Category: Endocrinology Source Type: research

Prevalence of less severe hypercortisolism in fractured patients admitted in an outpatient clinic for metabolic bone diseases
ConclusionsOur study confirms that a nonnegligible percentage of fractured subjects actually presents an unrecognized hypercortisolism. Accordingly, regardless of age, we suggest to screen for hypercortisolism all patients with established osteoporosis and in particular hypertensive subjects. (Source: Endocrine)
Source: Endocrine - January 23, 2021 Category: Endocrinology Source Type: research

The combined effects of obesity and ageing on skeletal muscle function and tendon properties in vivo in men
AbstractPurposeWe investigated the combined impact of ageing and obesity on Achilles tendon (AT) properties in vivo in men, utilizing three classification methods of obesity.MethodForty healthy, untrained men were categorised by age (young (18 –49 years); older (50–80 years)), body mass index (BMI; normal weight (≥18.5–
Source: Endocrine - January 23, 2021 Category: Endocrinology Source Type: research

Rate of non-invasive follicular thyroid neoplasms with papillary-like nuclear features depends on pathologist ’s criteria: a multicentre retrospective Southern European study with prolonged follow-up
ConclusionsNIFTP rate is low but highly variable in neighbouring institutions of the Iberian Peninsula. This study suggests pathologist ’s interpretation of nuclear alterations as the main cause of these differences. Patients disclosed an excellent outcome, even without using the strictest criteria. (Source: Endocrine)
Source: Endocrine - January 23, 2021 Category: Endocrinology Source Type: research

Markers of humoral and cell-mediated immune response in primary autoimmune hypophysitis: a pilot study
AbstractIntroductionPrimary autoimmune hypophysitis (PAHs) is a rare inflammatory disease of the pituitary gland. Although largely investigated, the pathogenesis of PAH is not completely clarified. We aimed to investigate the immune response in PAHs.Material and methodsSerum anti-pituitary and anti-hypothalamus antibodies (respectively APAs and AHAs) were investigated though an indirect immunofluorescence on monkey hypophysis and hypothalamus slides, serum cytokines though an array membrane and cell-mediated immunity though the white blood cells count.ResultsNineteen PAH cases entered the study. APA or AHA were identified ...
Source: Endocrine - January 23, 2021 Category: Endocrinology Source Type: research

Serum insulin-like factor 3 quantification by LC –MS/MS in male patients with hypogonadotropic hypogonadism and Klinefelter syndrome
ConclusionsThe dichotomy between lower INSL3 and higher testosterone concentrations, particularly observed in hCG-treated patients with HH, confirms that INSL3 is a different marker of Leydig cell function than testosterone. However, the clinical application of INSL3 in males with hypogonadism remains unclear. (Source: Endocrine)
Source: Endocrine - January 22, 2021 Category: Endocrinology Source Type: research

(Our response to) COVID-19: In science we trust
(Source: Endocrine)
Source: Endocrine - January 21, 2021 Category: Endocrinology Source Type: research

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series
ConclusionsNeonatal GI manifestations offer the most important window of opportunity for early detection of MEN2B. By accurate evaluation of rectal biopsies in patients with early onset severe constipation, IGN can be timely detected, while ruling out Hirschsprung ’s disease. MEN2B gene analysis should follow detection of IGN and—when confirmed—should prompt possibly still curative thyroid surgery. (Source: Endocrine)
Source: Endocrine - January 21, 2021 Category: Endocrinology Source Type: research

Diurnal blood pressure pattern and cardiac damage in hypertensive patients with primary aldosteronism
AbstractPurposeThe aim of our study was to evaluate the relationship between the 24-h blood pressure (BP) profile, plasma NT-proBNP levels and left ventricular hypertrophy (LVH) in subjects with primary aldosteronism (PA) compared to patients with essential hypertension (EH).MethodsA total of 385 consecutive patients with PA [187 with aldosterone producing adenoma (APA) and 198 with idiopathic hyperaldosteronism (IHA)] and 385 patients with EH were matched based on age, sex, body mass index (BMI), BP values and duration of hypertension. Twenty-four-hour ambulatory BP monitoring (ABPM), plasma levels of NT-proBNP, left vent...
Source: Endocrine - January 21, 2021 Category: Endocrinology Source Type: research

Are American follow-up recommendations in endocrinology actionable? A systematic review of clinical practice guidelines
ConclusionsOne out of ten clinical recommendations for endocrine conditions guide follow-up and their content is variable. More than half of the follow-up recommendations are supported by low/very low-quality evidence and the majority does not provide an action threshold. A specific framework for developing follow-up recommendations can aid guideline panelists and support evidence-based monitoring. (Source: Endocrine)
Source: Endocrine - January 21, 2021 Category: Endocrinology Source Type: research

Response to Letter to the Editor: “High biochemical recurrence rate after withdrawal of cabergoline in prolactinomas: is it necessary to restart treatment?”
(Source: Endocrine)
Source: Endocrine - January 21, 2021 Category: Endocrinology Source Type: research