Purpose Leydig cell hypoplasia is a rare autosomal recessive 46,XY disorder of sexual development (DSD). It is caused by homozygous or compound heterozygous inactivating mutations in the human luteinizing hormone/chorionic gonadotropin hormone receptor (LHCGR) gene. In Leydig cell hypoplasia type I, patients are characterized by predominantly female external genitalia, which usually go unrecognized

Introduction Occurrence of pancytopenia in patients with untreated hyperthyroidism is extremely rare. To the best of our knowledge, only 30 cases have been reported in the English literature. Accurate diagnosis and appropriate tailored therapy are challenging due to the variegated causes of pancytopenia and the potential hematological toxicity of antithyroid drugs (ATDs). Case report We present a 51-year-old

Purpose The natriuretic peptides (NPs) system, and mainly atrial natriuretic peptide (ANP), plays a key role in human metabolism and cardiometabolic disorders. Due to differences in NP levels and in prevalence of metabolic syndrome (MetS) between men and women, we aimed to explore the gender difference of association between N-terminal pro-atrial natriuretic peptide (NT-proANP) and MetS in a general

As type 2 diabetes mellitus (T2DM) reaches epidemic proportions in the developed world and the age at diagnosis decreases, more women of reproductive age are being affected. In this article, we provide a synoptic view on potential mechanisms and relevant factors underlying menstrual cycle disorders and fertility issues in women with T2DM. The article discusses the function of the hypothalamic-pituitary-ovarian

The original version of this article, published on 10 December 2019 contained a mistake.

Purpose Recent studies have shown that cytokines secreted from adipose tissues play a role in the pathogenesis of type 2 diabetes mellitus (T2DM). CTRP5 (C1q-TNF-related protein 5) is a novel adipokine that has been shown to be associated with glucose and lipid metabolism. Varying levels of CTRP5 have been reported in individuals with diabetes, obesity and coronary artery disease. The aim of this study

Background The progression of endometrial cancer (EC) is closely related to estrogen levels. UDP-glucuronosyltransferases (UGTs) are an essential class of phase II metabolizing enzymes that play a pivotal role in detoxifying steroid hormone. Purpose In this study, we aimed to uncover the role of UGTs in estrogen metabolism and the pathogenesis of EC. Methods A total of 100 unrelated EC patients (mean

Purpose The daily circadian cycle is known to modulate both feeding behavior and metabolism. As such, the timing of food consumption can play a role in regulating overall health. The purpose of this study is to determine whether fasting at different times of the day alters subsequent food consumption and levels of PYY3–36, a hormone secreted after a meal which inhibits appetite. Methods Separate groups

Parathyroid cancer is a rare malignancy and an uncommon cause of hyperparathyroidism. In the present study, we present seven cases of parathyroid carcinoma. The female ratio was 5/7 (71.4%). Median age at diagnosis was 47 years, and median follow-up duration was 60 months (IQR 29–75). Mean calcium level at diagnosis was 12.7 mg/dL (range, 11.3–13.9), and mean parathormone level was 1115 ng/L (IQR 287–1470)

Purpose The aims of this study were to investigate the correlation of sex hormone-binding globulin (SHBG) and the components of metabolic syndrome (MetS) and explore the ability of SHBG to predict MetS in newly diagnosed and untreated patients with polycystic ovary syndrome (PCOS). Methods Ninety-eight newly diagnosed and untreated patients with PCOS and 37 healthy volunteers were recruited. A receiver

Purpose Menopause modifies women’s lipid profiles. However, the fact that it is still unclear whether high-density lipoprotein-cholesterol (HDL-C) levels decrease in postmenopausal women necessitated a systematic review and meta-analysis. Methods The PubMed, EMBASE, Cochrane Library, and Web of Science databases were searched and 498 articles published between 1987 and 2020 were retrieved. Studies

The purpose of this review is to present a different perspective of the relative energy deficiency syndrome, to improve understanding of associated endocrine alterations, and to highlight the need for further research in this area. The term “female athlete triad” was coined over 25 years ago to describe three interrelated components: disordered eating, menstrual dysfunction, and low bone mass. The

Menopausal hormone therapy (MHT) is effective in preventing menopause-related bone loss and decreasing vertebral, non-vertebral and hip fracture risk. MHT contains estrogens that exert both antiosteoclastic and osteoanabolic effects. These effects are dose-dependent, as even ultra-low doses preserve or increase bone mineral density. The transdermal route of administration is effective on cancellous

Background Immune checkpoint blockade therapy may lead to thyroid dysfunction in 3–7% of treated patients. Alemtuzumab is a CD52 inhibitor leading to thyroid dysfunction in approximately 40% of patients. A female patient was affected by multiple sclerosis (MS) and subclinical hyperthyroidism due to an autonomously functioning thyroid nodule (AFTN). After alemtuzumab treatment, she developed aggressive

Purpose The main objective of the present study was to investigate the attitudes among a sample of educated Greek consumers toward the use of dietary supplements (DS) and functional foods (FF) given that attitudes and behaviors as regards DS/FF have not been sufficiently evaluated in Southern Europe, where their penetration is lower as compared to northern countries. Method An online questionnaire

Diabetes mellitus (DM) is a chronic multisystem disease. Diabetic nephropathy (DN) is one of its significant microvascular complications, associated with increased morbidity and mortality. The aim of this article is to review the literature regarding the latest advances in the management of type 2 DM (T2DM) in patients with chronic kidney disease (CKD). We initially refer to the screening guidelines

Heart disease remains the leading cause of death globally. Heart failure (HF) is a clinical syndrome that results from impairment of the ability of the ventricle to fill with or eject blood. Over the past two decades, accumulated evidence has revealed the contribution of thyroid hormones to cardiovascular (CV) events, exerting their action through genomic and non-genomic pathways within the cardiomyocytes

Purpose Polycystic ovarian syndrome (PCOS) is a common disorder characterized by clinical or biochemical hyperandrogenism and ovulary dysfunction. Female sexual dysfunction (FSD) adversely affects quality of life and interpersonal relationships. We aimed to compare the prevalence of FSD in women with and without PCOS. Methods We pooled data from 28 observational studies involving 6256 women. Apart

Gestational diabetes mellitus (GDM) is the most common metabolic disease of pregnancy and is associated with several perinatal complications. GDM is defined as diabetes diagnosed in the second or third trimester of pregnancy that was not clearly overt diabetes prior to gestation. In Europe, in 2016, the prevalence of GDM was estimated to be 5.4% (3.8–7.8). It varied depending on maternal age, year

Purpose Polycystic ovary syndrome (PCOS), considered a lifelong condition, manifests mainly as a cluster of hyperandrogenic symptoms during the early reproductive years, with the affected woman gradually developing an adverse cardiometabolic profile over the years. However, some data point to the possibility of differences in the evolution of PCOS according to a woman’s weight. The aim of the present

PURPOSE There are limited and inconsistent results on the correlation between vitamin D and mental health in patients with type 2 diabetes (T2D). Thus, our aim was to explore the association between vitamin D and mental well-being in a community-based sample of participants with T2D. METHODS We analyzed serum 25-hydroxyvitamin D3 (25(OH)D3) in 698 patients with T2D at the baseline examination. The

A number of studies have investigated primary and secondary prevention strategies for type 1 diabetes (T1D), since early interventions might improve long-term outcomes through the amelioration of immune processes and the preservation of beta-cell mass. Primary prevention trials focus on genetically at-risk individuals prior to the appearance of autoimmunity, whereas secondary prevention trials aim

Despite the rise in the incidence of papillary thyroid carcinoma (PTC) during the last 30 years, the mortality rate due to PTC has remained static. One reason for this phenomenon is the indolent nature of some of the tumors that are diagnosed as PTC. A subgroup of tumors, which often exhibited such indolent behavior, was encapsulated/well-circumscribed follicular lesions that showed PTC nuclear features

Women with type 1 (T1DM) or type 2 diabetes (T2DM) diagnosed prior to pregnancy are classified as having pre-existing diabetes mellitus (DM). The prevalence of hyperglycemia in pregnancy has been estimated at 17% globally and 5.4% in Europe, differences existing among racial and ethnic groups, following the prevalence of type 2 diabetes. Only a minority (approximately 15%) of the cases of diabetes

PURPOSE The salivary amylase gene (AMY1) copy number variation (CNV) is increased as a human adaptation to starch-enriched nutritional patterns. The purpose of this study was to evaluate the relationship between AMY1 CNV, dietary starch consumption, and anthropometric indices among a known population with elevated cardiovascular risk, being end-stage renal disease (ESRD) patients. METHODS A total of

BACKGROUND The success of minimally invasive parathyroidectomy (MIP) relies on accurate localization of the abnormal parathyroid glands. Concordant findings on ultrasound (US) and 99mTc-scintigraphy (sestamibi) are currently considered the 'gold standard'. Computed tomography (CT) has also recently been used in preoperative planning. We sought to assess the accuracy of CT for localization of abnormal

The thyroid gland plays a crucial role in the regulation of metabolism, oxygen consumption, and the release of energy in the form of heat to maintain the body. Even at rest, these processes are sensitive to changes in thyroid function. This means that along with the adrenergic system, thyroid function determines the organism's ability to adapt to cold. Cold adaptation causes deiodination of thyroxine

Adrenal insufficiency represents a debilitating condition which mandates lifelong steroid replacement and which is associated with significant long-term morbidity, due to either inadequate or excessive replacement. The concept of preserving healthy cortical tissue by means of partial adrenalectomy has evolved as a means of avoiding the detrimental consequences of adrenal insufficiency. The advent of

BACKGROUND Acromegaly is a rare disease resulting in clinical sequelae with significant morbidity and mortality due to the central tumor mass effect and prolonged growth hormone (GH) hypersecretion. OBJECTIVES The goal is to describe the epidemiology, clinical features, presence of comorbidities, and treatment outcomes of acromegaly in Saudi Arabia. METHODS Data was collected through a retrospective

PURPOSE We have recently demonstrated that absolute counts of circulating proinflammatory monocytes were lower in obese patients without metabolic syndrome (MS) (metabolically healthy obese, MHO) compared with those with MS (metabolically unhealthy obese, MUO), but higher compared with healthy lean controls (MHL). We hypothesized that circulating resistin, a cytokine secreted by white blood cells (WBC)

This review attempts to summarize data on the prevalence of thyroid pathology in the Bulgarian population over a period of 20 years. Thyroid dysfunction was studied in two population-based studies (2006 and 2012). In the first, hypothyroidism was found in 6.3% and hyperthyroidism in 3.7% of the participants. The second study found overt and subclinical hypothyroidism in 3.2% and 4.5%, respectively

PURPOSE We aimed to explore the associations of serum cortisone and glucocorticoid receptor (GR) polymorphism with glucose metabolism and type 2 diabetes mellitus (T2DM) among Chinese adults. METHODS A total of 2315 participants were included in the present study. Serum cortisone was measured by liquid chromatography-tandem mass spectrometry. Multivariable logistic regression and linear regression

There is a possibility that Count Ivan VIII Drašković (1740-1787), a member of one of the oldest and most famous Croatian noble families, had Graves' disease and suffered from a thyroid disorder. Our suspicions were aroused by certain data, including his personal history, his lifestyle, including use of tobacco and iodine, as well as stress, and, finally, two portraits. If he was affected by Graves'

The Bone Section of the Hellenic Endocrine Society has issued the recommendations herein presented with the aim of providing guidance on optimal management of patients with parathyroid disorders in everyday clinical practice within the Greek health care setting. Although the methodology followed to formulate these recommendations was not strictly based on the Grading of Recommendations Assessment,

PURPOSE/OBJECTIVE The present study was designed to test whether adding a relaxation training technique to the medical treatment of patients with type 1 diabetes mellitus could, adjusting for the non-specific factors of therapy, lead to an improvement in the patients' condition. METHOD Forty-six participants were randomly allocated either to an experimental (intervention) group, receiving weekly sessions

Purpose The current cut-offs for the diagnosis of adrenal insufficiency (AI) have been established using outdated immunoassays. We compared the cortisol concentrations measured with Roche Cortisol I (R1), the newly available Roche Cortisol II (R2), and liquid chromatography tandem mass spectrometry (LC-MS/MS), the gold standard procedure to measure steroids in patients undergoing the corticotropin

Today, the possibility exists to measure a number of different vitamin D metabolites with accurate and precise methods. The most abundant vitamin D metabolite, 25(OH)D, is considered the best marker for estimating vitamin D status and is therefore the most commonly measured in clinical practice. There is no consensus on the added value of measuring other metabolites beyond 25-hydroxyvitamin D, although

Purpose Oxidative stress is closely related to type 1 diabetes mellitus (T1DM), playing a key role in the pathogenesis of the disease and progression of complications. It is characterized by loss of equilibrium between oxidative factors and antioxidant protective mechanisms. Several markers have been used to assess both components of oxidative status; two of which are malondialdehyde (MDA) and ferric

Purpose Patients with thyroid cancer are often assumed to have no quality of life (QOL) impairments after treatment because of thyroid cancer’s good prognosis. However, the QOL implications of surgical complications and the necessity to take lifelong medication are seldom assessed. Methods Patients who had surgery due to thyroid cancer at the University Medical Center Mainz between 2010 and 2015 and

Purpose AQP7, a water/glycerol transporting protein, regulates adipocyte glycerol efflux and influences lipid and glucose homeostasis. Altered AQP7 expression in adults leads to impaired glycerol dynamics, adipocyte hypertrophy, and a predisposition to obesity and diabetes. AQP7 gene promoter variants lead to impaired AQP7-mediated adipocyte glycerol efflux and adipocyte hypertrophy. To assess its

Disorders of thyroid function are among the commonest referrals to endocrinology. While interpretation of thyroid function testing is usually straightforward, accurate interpretation becomes significantly more challenging when the parameters do not behave as would be expected in normal negative feedback. In such cases, uncertainty regarding further investigation and management arises. An important

PURPOSE Nonfunctioning pituitary adenomas (NFPAs) are among the commonest benign tumors of the pituitary. Hypopituitarism is frequently present at the time of diagnosis, and this has been attributed to stalk portal vessel compression and/or destruction of normal anterior pituitary cells. The aim of our study was to examine possible factors at diagnosis associated with the presence of hypopituitarism

PURPOSE Platelet microparticles (PMPs), which are microvesicles shed from platelets, participate in inflammation, vascular homeostasis, and thrombosis. PMPs are increased in obese women with polycystic ovary syndrome (PCOS). Agents that modulate hormonal aspects of PCOS could affect the levels of PMPs. The aim of the present study was to evaluate the effects of oral contraceptives (OCPs), antiandrogen

Purpose Testosterone (T) plays an important role in men’s health and its deficiency is linked with poorer health. However, the role of nutritional and lifestyle factors in T regulation and production remains unclear. The objectives are to comprehensively test the cross-sectional associations of nutritional and lifestyle factors with T deficiency and to validate the associations in the NHANES survey

PURPOSE The incidence and clinical significance of thyroiditis detected by molecular imaging methods is a clinical challenge that is not widely investigated in the literature. The aim of this systematic review was to analyze published data about the detection of thyroiditis on PET or PET/CT using different tracers. METHODS A comprehensive computer literature search of the Scopus, PubMed/MEDLINE, Embase

Aristotle was the first author who described the existence of abnormalities in the timing of human puberty. In the classic Greek-Roman period, Pliny the Elder and Phlegon of Tralles described the first individual cases of precocious puberty in children. During the Middle Ages, precocious puberty in the male (but not in the female) was ignored. We present what is, to our knowledge, the first full description

Over the last decade, we have witnessed considerable progress in gender dysphoria (GD) terminology in an attempt to better describe the condition based on certain criteria. The ever-increasing social acceptance and destigmatization of children and adolescents with GD have resulted in an increased number of transgender individuals seeking endocrine care. In addition to terminology and diagnostic criteria

We present and discuss a late-nineteenth century clinical case described by Professor Taruffi in a scientific paper titled "Scheletro con prosopoectasia e tredici vertebre dorsali" (Skeleton with prosopoectasia and thirteen thoracic vertebrae). Taruffi could not explain the disproportionate skeletal and visceral growth, and the case could therefore be considered an unrecognized case of acromegaly.

PURPOSE Defective function of phenylalanine hydroxylase in phenylketonuria (PKU) results in the accumulation of phenylalanine (Phe) and the reduction of tyrosine (Tyr) in the blood, interfering in the normal development and function of organs and tissues in the body. Tyr is the precursor of catecholamines, secreted in response to stress by the adrenal medulla and paraganglia. The aim of this study

The original version of this article, published on 18 December 2019, contained a mistake.

Selenium (Se), an important oligoelement, is a component of the antioxidant system. Over the last decade, it has been ever more frequently discussed in the context of thyroid disorders. Graves' disease and Hashimoto's thyroiditis, differentiated thyroid cancer, and even endemic goiter may have common triggers that are activated by excess reactive oxygen species (ROS), which are involved in various

PURPOSE Ectopic Cushing's syndrome (ECS) caused by an ACTH secreting neuroendocrine neoplasm (NEN) is a rare and challenging condition. We aimed to detect predictive and prognostic parameters for ECS patients identified from a retrospective, comprehensive cohort of NENs treated at a tertiary referral center. METHODS Medical records of 886 patients with NENs were reviewed. We identified 51 patients

Pituitary tumors (PTs) are a heterogeneous group of lesions of the central nervous system that are usually benign. Most of them occur sporadically, but 5% can do so within family syndromes, usually at a young age. There are differences by sex, age, race, and genetic factors in the prevalence of different tumor cell types and clinical presentation. Functioning-PTs (FPTs) are usually diagnosed earlier

Background Despite many epidemiological studies having been conducted, the impact of postnatal exposure of endocrine disruptors (EDs) on testicular function remains a controversial issue. Aim To systematically review the literature and perform a quantitative synthesis to evaluate the effect of EDs on testicular function. Materials and methods A comprehensive search was conducted in the MEDLINE, Scopus

It has been more than 80 years since the discovery of vitamin D and its ability to cure rickets in children. Vitamin D is a secosteroid and comes in two distinct forms, vitamin D2 and vitamin D3. During the last 40 years, the synthesis and metabolism of vitamin D were elucidated and more than 50 metabolites of vitamin D have been discovered, though commercial measurement procedures have been developed

The original version of this article, published on 26 November 2019, contained a mistake. An author's name was misspelled.

Background Endometriosis is one of the most common gynecological diseases of reproductive age, with a prevalence of 5–10% and grave consequences for quality of life and fertility. Vitamin D (vit D), a classic regulator of plasma calcium concentration and skeleton mineralization, is also an effective modulator of the immune system. Several studies suggest that immunologic properties attributed to vit

Mild hyperkalemia is a common side effect of mineralocorticoid receptor antagonist (MRA) treatment of patients with primary aldosteronism (PA), which can be worsened by instructions to minimize salt intake. Our objective was to evaluate the effect of salt consumption on serum potassium levels and mean, mean minimal, and mean maximal systolic and diastolic blood pressure (BP) in MRA-treated hyperkalemic

The aim of this article is to analyze and critically appraise the literature regarding optimal bone health care in women with breast cancer and, more specifically, to present (1) the causes of bone loss in breast cancer patients, (2) the appropriate screening for osteoporosis and fracture risk estimation, (3) optimal prevention and therapeutic strategies for osteoporosis and fractures, (4) the role