Endocrine Abstracts

ContextPrimary aldosteronism (PA) is the most common cause of secondary hypertension. Yet, the incidence of PA in the population has not been studied.ObjectiveTo estimate the incidence of PA in western Sweden.Design and methodsPatients who had received a diagnostic code for PA between 1987 and 2016 were identified in the Swedish National Patient Registry. Assessme...

Objectives: Iodine fortification (IF) induces an initial increase followed by a decrease in the incidence of hyperthyroidism in the population. Also, the sex-, age-, and subtype distribution of hyperthyroid cases changes after IF. The risk of atrial fibrillation (AF) in hyperthyroid patients is influenced by these factors. Therefore, we aimed to examine how the association between incident hyperthyroidism and atrial fibrillation was affected by an IF increasing the population ...

Background: Triple A (Allgrove) syndrome is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in the AAAS gene on chromosome 12q13. It is characterized by the following triad: ACTH-resistant adrenal insufficiency, alacrimia, and achalasia.Case presentation: We present the case of a 19-year-old male who was diagnosed with adrenal insufficiency at the age of five following an addisonian crisis with hypoglycemic coma. At the ...

Multiple sclerosis (MS) is a common inflammatory autoimmune and demyelinating disease of the central nervous system (CNS) that compromises health and leads to disability. Sex differences in the prevalence and progression of MS suggest the involvement of sex steroids in the pathophysiology of MS. In late pregnancy, at the highest levels of progesterone and estradiol, the number of relapses decreases and increases again after delivery due to changes in steroid levels. In additio...

Introduction: Isolated congenital central hypothyroidism (CeCH) is a rare entity associated with mutations in IGSF1, TSHB, TRHR, or the coding region of TBL1X. We describe a female with CeCH and extrathyroidal features due to a partial X-chromosomal deletion involving TBL1X and other genes. Further studies showed markedly reduced TBL1X expression in patient-derived leukocytes and enabled linkage of particular clinical phenotypes to ...

Introduction: Gastric neuroendocrine tumors (GNET) are rare gastric neoplasms which are developed due to hypergastrinemia and enterochromaffin-like (ECL) cell hyperplasia. Although the effect of the circadian clock system disruption on tumorigenesis has been already studied in various malignancies and autoimmune diseases, the role of the peripheral clock system in the transition from ECL-cell hyperplasia to GNEN1 (Type 1 Gastric Neuroendocrine Neoplasms) remains unexplored.</p...

Finasteride is a 5alpha-reductase (5α-R) inhibitor used in clinics to treat androgen-dependent conditions, such as benign prostate hyperplasia and androgenetic alopecia (AGA). Its use has been associated with several adverse effects, including sexual complaints. However, to date, no hypothesis to explain such adverse effects has been proposed. This is a consequence of the still incomplete knowledge of the intricate network of motivational, psychological, and molecular inp...

Introduction: The biological rhythm pattern is synchronized through circadian oscillation of cortisol and melatonin release. Increased cortisol levels and circadian rhythm disruption act as an oncogenic factor in endometrial cancer through among others- dysregulation of cell proliferation/apoptosis and invasion.Aim: To investigate, whether there is an oscillatory expression of the clock genes, MT1 and GR expression in human endometrial carcinoma cells. T...

Introduction: Pituitary gigantism is a rare disorder characterized by growth hormone (GH) excess that occurs before epiphyseal growth plates fusion leading to rapid and excessive linear growth in childhood and very tall adult stature. It can be sporadic or coexist with genetic disorders such as FIPA, X-LAG, McCune-Albright, Carney complex, MEN 1 or 4, and Neurofibromatosis type 1.Case report: We present a case of a 12 years old boy with no medical histor...

White adipose tissue (WAT) is a dynamic and heterogeneous organ composed of different cell types involved in a wide array of biological processes. We know that women with polycystic ovary syndrome (PCOS) suffer from insulin resistance and type 2 diabetes which is associated with pathological white adipose tissue (WAT) function and expansion characterized by hypertrophic adipocytes, altered production and release of lipids and adipokines, and chronic low-grade tissue inflammati...