Endocrine Abstracts

Background: Sepsis is hallmarked by an immediate and sustained decrease in total-, HDL-, and LDL- cholesterol, associated with poor outcome and suggested to be a potential contributor to adrenal failure and muscle weakness in the critically ill. Although the underlying mechanisms are unclear, this sepsis-induced hypocholesterolemia has been postulated to be due to an increased conversion of cholesterol to cortisol. We hypothesized that hydrocortisone (HC) trea...

Fat accumulation, lipogenesis and glycolysis are key contributors to hepatocyte metabolic reprogramming and the pathogenesis of non-alcoholic liver fatty liver disease (NAFLD). The molecular mechanisms affected by steatosis and inflammation in the obese state remain unknown. Here we report that obesity leads to dysregulated expression of protein-tyrosine phosphatases in human livers. Protein Tyrosine Phosphatase Receptor Kappa (PTPRK) levels were increased in hepatocytes by st...

Background: To arrest the immune-mediated destruction of the insulin-producing pancreatic beta cells in type 1 diabetes (T1D), interventional studies have predominantly focussed on two distinct approaches: arresting the ongoing immune response or protecting the pancreatic beta cells. Recently, both approaches using respectively low-dose anti-thymocyte globulin (ATG), an immune-depleting agent, and verapamil, a calcium channel blocker with beta cell protective ...

Background and aim: Androgens and glucocorticoids are regulated via the hypothalamus-pituitary-gonadal (HPG) and hypothalamus-pituitary-adrenal (HPA) axis, respectively. We aimed to check possible interference of androgen deprivation with the HPA axis and circulating glucocorticoid levels. Androgen deprivation is most widely used in the treatment of prostate cancer, but is also applied in gender-affirming care and males with hypersexual disorder. Current insig...

Background: An increasing number of people with type 1 diabetes (TlD) have co-existing insulin resistance (IR). Our goal was to investigate whether IR is associated with continuous glucose monitor (CGM)-derived parameters (glucometrics) such as time in range (TIR), time above range (TAR), time below range (TBR) and glycaemic variability (CV).Methods: This is a retrospective analysis of two separate clinical studies (NCT0...

Background: Since pelvic gender-affirming surgery (GAS) is no longer required for legal gender change, we expect a growing number of transgender men and gender nonbinary people who refrain from pelvic surgery. Little is known about the effects of long-term testosterone use on the reproductive organs. Polycystic ovaries and endometrial changes have been described in previous histology-based studies. Furthermore, cervical cancer screening (CCS) is still recommen...

Context: Cyproterone acetate (CPA) is an androgen receptor blocker often used for testosterone suppression as a part of gender-affirming hormonal treatment (GAHT) in transgender women. In recent years, more concerns have been raised towards an increased risk of meningioma development, linked to CPA use in higher doses (25 mg or more per day).Objectives: To determine if lower doses of CPA are equally effective in maintain...

Aims: Recently, our team introduced the concept of post-hypoglycemic hyperglycemia (PHH) in the context that recovery of hypoglycemia impacts cardiovascular risk. GLUREDIA study aimed to evaluate whether PHH parameters correlated with glycemic homeostasis during the first year after type 1 diabetes onset and helped to distinguish pediatric patients undergoing partial remission or not.Methods: In the GLUREDIA study, longi...

Background: Familial hypercholesterolemia (FH) is a genetic disease characterized by hypercholesterolemia and premature cardiovascular events. Early diagnosis and treatment can strongly reduce the cardiovascular burden.Objective: We aim to describe the characteristics of patients with heterozygous FH followed in a tertiary hospital in Belgium.Methods: We retrospectively studied a c...

Aims: Several studies show a deficit in cortical bone in adults with Klinefelter syndrome (KS). A correlation between the adult cortical bone deficit and impaired bone accumulation during childhood or adolescence remains unclear. Therefore, we evaluated the cortical bone by automated digital X-ray radiogrammetry in KS children and adolescents and evaluated potential associations with hormonal, radiographic, and anthropometric factors implicated in bone mineral...

Adrenal venous sampling (AVS) is considered as the gold standard test for primary aldosteronism (PA) subtype diagnosis. However, it is also an invasive and technically challenging procedure. In order to reduce the use of AVS, we propose a new score predicting a unilateral (UPA) or bilateral (BPA) form of PA using biological and radiological parameters. The score was retrospectively developed on a cohort of 72 patients who underwent AVS at the Cliniques Universitaires St-Luc Br...

Introduction and objective: Patients with the 22q11.2 deletion syndrome (22q11DS) frequently display cardiological and psychiatric diseases, but are also at increased risk for endocrine manifestations. The aim of this study was to evaluate the screening, prevalence, and management of hypoparathyroidism and thyroid disease in patients with 22q11DS, to evaluate the metabolic profile and to compare these results with current literature and guidelines.<p class...

Purpose: Deficiency of the adrenocortical axis is, except for glucocorticoid-induced adrenal deficiency, most commonly associated with failure of multiple pituitary axes and is less common isolated. Isolated adrenocorticotropic hormone deficiency (IAD) has been first described by Steinberg et al. in 1954. Acquired idiopathic IAD is defined by a secondary adrenal insufficiency with otherwise normal pituitary function, absence of structural pituitary defects, no...

Background: Over the last two decades, type 2 diabetes mellitus (T2DM) has increasingly been recognized as a fracture risk factor, despite the occurrence of normal to even increased bone mineral density (BMD) (1). The dual energy X-ray absorptiometry (DXA) derived trabecular bone score (TBS) is considered to be a proxy of bone quality and has been reported to be diminished in diabetic patients (2) and insulin resistant, non-diabetic postmenopausal women (3).</...

Background: Treatment of primary hyperparathyroidism (PHPT) and secondary hyperparathyroidism due to idiopathic hypercalciuria (SHPT-IH) is markedly different. Nevertheless, differentiating one from another remains a challenge and robust diagnostic tools are lacking. The thiazide challenge test (TCT) has been proposed to aid clinicians in their decision making. However, evidence supporting its use is non-existent.Materials and me...

Objective: To investigate performance of sex hormone binding globulin (SHBG) assays of different manufacturers and the effects of assay choice on calculated free testosterone (cFT).Methods: Anonymized serum samples of 113 men and 106 women were randomly selected from excess material from the routine clinical lab at the University Hospital of South Manchester. SHBG levels were measured using three different immunoassays (...

Background: Pituitary adenomas are the most prevalent tumours in the sellar region and can either be functioning, with autonomous pituitary hormone secretion, or non-functioning. Clinically evident adenomas occur in 1 in 1,100 in the general population. Pituitary adenomas have traditionally been subdivided into microadenomas (<10 mm) or macroadenomas (≥ 10 mm), with macroadenomas comprising 48% of clinically relevant adenomas. Non-functioning pituita...

Introduction: Cushing’s syndrome (CS) is a medical condition resulting from a chronic excessive exposure to glucocorticoids. ACTH-dependent CS are mostly caused by pituitary adenoma (about 80-85% of the cases) and, in a lower proportion, by ectopic ACTH secretion (about 10-15% of the cases). The exact origin of an ectopic secretion of ACTH is not always easy to identify. The most common locations are bronchus, lung and pancreas but it can also be located ...

Introduction: Cyclic Cushing Syndrome (CCS) is a rare entity of Cushing’s syndrome (CS), characterized by a cyclic excretion of cortisol, resulting in periods of hypercortisolism intertwining with periods of hypo- or normocortisolism. Diagnosis of CS as such can be challenging, moreover the cyclicity of CCS may necessitate repeated testing. (1)Case: A 68 year old woman consulted because of periodically appearing ede...

Introduction: Hyperparathyroidism (HPT) during pregnancy is rare but requires a specific approach for its diagnosis HPT is associated with a high incidence of associated maternal, fetal and neonatal complications, including miscarriage (3,5x-fold higher than expected), IUGR, prematurity and pre-eclampsia(1,2,3). The severity of complications is proportional to degree of maternal calcium level.Case report: We report the c...

Introduction: Cushing disease (CD) is a rare pathology and associated with serious complications and an increased mortality (standardized mortality ratio 2.8) (1). The mortality risk is twice as high (standardized mortality ratio 5.7) if CD is biochemically not well controlled. Transsphenoidal tumor resection is the first line treatment. However, the need for second line treatment is high, as 5-50% of patients in remission after surgery relapse and consist of ...

Background: Adrenocortical carcinomas (ACC) are rare and aggressive endocrine tumours with an annual incidence of 1 to 2 per million.(1) Frequently, patients present with signs of hormonal excess. The majority are cortisol excreting carcinomas, followed by aldosterone or androgen excess.(2) Estrogen secreting ACC are extremely rare. We present a case of estradiol and progesterone excess in primary infertility caused by an ACC.Cas...

Introduction/Background: Adrenal incidentaloma is defined as an asymptomatic adrenal mass greater than 1 cm, discovered during imaging performed for another purpose1. The main goal when discovering such a tumor is to rule out a hormonally active lesion or a malignant condition. Radiological characteristics on non-contrast CT or MRI can help to determine if a lesion is benign. If the lesion nature remains indeterminate after these exams, it is recomm...

Case report: A 50-year-old man was referred by his family doctor to the emergency room in September 2020 for intermittent abdominal pain in the right upper quadrant for several months. He also mentioned weight loss and several episodes of fever with chills. The patient was an active smoker, consumed large amounts of alcohol, and had no known medical history, nor taking any medication. At physical examination, the patient appeared pale and cachectic, with tende...

Cushing’s syndrome (CS) remains a diagnostic challenge due to an overlap with other clinical conditions such as pseudo-Cushing, which can be triggered by major depression, alcoholism, and metabolic syndrome. The most prevalent cause of CS is iatrogenic. When Cushing’s syndrome is caused by endogenous cortisol secretion, most often an ACTH-secreting pituitary adenoma is the culprit and the syndrome is hence referred to as Cushing’s disease. In very rare cases CS ...

Introduction: MEN2B is a rare genetic tumor syndrome that causes medullary thyroid cancer at a young age and may lead to pheochromocytoma later in life. Early diagnosis is crucial for thyroidectomy before metastasis. This case report aims to increase awareness of MEN2B signs and symptoms and the need for early referral and treatment.Case: A 10-year-old girl was referred for ultrasound imaging of a swollen submandibular g...

Background: Childhood growth hormone deficiency (GHD) is a clinically heterogeneous condition and may have a genetic basis. Association with abnormalities of eyes, ears, palate and other parts of the forebrain or familial occurrence of GHD suggest a genetic cause (1). The occurrence of childhood GHD in association with gingival fibromatosis led to the identification of two autosomal dominant KCNQ1 missense variants (Arg116Leu and Pro369Leu). KCNQ1 gene encodes...

Introduction: Bardet-Biedl syndrome (BBS) is an autosomal recessive, monogenic syndrome of obesity, with an estimated prevalence of 1:160.000. BBS is caused by mutations in one of the twenty-six genes that play a role in the function of primary cilia (1). Early-onset obesity, post-axial polydactyly, retinitis pigmentosa, renal or genitourinary abnormalities, learning disabilities and hypogonadism are considered primary features. Diabetes, speech deficit, heari...

Serum or plasma human chorionic gonadotropin (hCG) immunoassays are a cornerstone in diagnosis and monitoring of pregnancy [1]. Although these assays show very satisfying performance, pathophysiological (e.g., menopause induced pituitary secretion of hCG, familial hCG syndrome, exogenous hCG injections) and analytical (e.g., interference of heterophilic antibodies or anti-hCG antibodies, lack of specificity of older assays) determinants may rarely cause false positive results ...