Endocrine Abstracts

Diabetes prevalence has been worryingly growing in recent decades, reaching pandemic proportions. Genetic and environmental factors play a role in diabetes aetiology. While the genetic background may predispose individuals to the disease, environmental factors, including exposure to chemical pollutants that can disrupt metabolic functions (also known as metabolism disrupting chemicals or MDCs), may act as triggers to diabetes development. Despite growing evidence suggesting a ...

Women with polycystic ovary syndrome (PCOS) have higher prevalence of metabolic disturbances such as changes in lipid profile, diabetes, hypertension and metabolic syndrome. Variants on vitamin D receptor (VDR) gene have also been related to metabolic comorbidities in general population. Therefore, the aim of the present study was to investigate whether Apa-I polymorphism (rs7974232) in the VDR gene is associated with metabolic syndrome and endocrine profile in PCOS. In this c...

Introduction: Neonatal diabetes mellitus (NDM) is a rare disease diagnosed within the first months of life that is usually permanent in 50% of cases. Heterozygous mutations of KCNJ11 and ABCC8 genes encoding the two Kir6.2 and SUR1 subunits of the b-cell ATP-dependent potassium channel have been associated with NDM, which is characterized by a successful response to sulfonylureas.Case report: We present a 32-year-old woman diagnosed wit...

Introduction: Generously supported by IPSEN)-->Dopamine agonists (DA) effectively normalize prolactin secretion and reduce tumour size in most patients with macroprolactinomas. However, some patients are considered partially/totally resistant. Some authors propose that patients treated for 2 years, with normal prolactin secretion with low dose AD and maximal tumour diameter reduction >50%, could suspend treatment, but relapse rat...

Generously supported by IPSEN)-->Insulin and somatotropin (GH) have opposite effects in glucose metabolism. GH increases the production of glucose through lypolisis and inhibits hepatic and peripheric neoglucogenesis induced by insulin. When insulin secretion is insufficient to overcome insulin resistance, intolerance to glucose or diabetes appears. Drugs used in the treatment of acromegaly also influence glucose metabolism: SSA decr...

Introduction: In 1960, Van Wyk and Grumbach described the association of hypothyroidism and precocious puberty. Hypothyroidism leads to delayed bone age and a reduction in growth rate by reducing the amplitude of GH pulses. When precocious puberty is associated with thyroid hypofunction, estrogen action on the epiphyseal plates reduce this delay. We report the case of a child who developed incomplete puberty and reduced growth rate, caused by primary hypothyroidism.<p clas...

IntroductionPrader-Willi syndrome (PWS) is a multisystemic genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Despite PWS present manifestations from birth, affected individuals can remain undiagnosed until adulthood.Clinical caseWoman, 40 years old, with cognitive impairment, referred to endocrinology due to morbid obesity (BMI 44.5 Kg/m2</s...

Introduction: Primary thyroid lymphoma is rare and accounts for less than 5% of all thyroid malignancies. The risk is almost 60 times higher in those with thyroiditis and is more common in females, with a ratio of 4:1. The most frequent local symptom is a rapidly enlarging thyroid gland along with the resultant obstructive symptoms. Fine needle aspiration is the initial diagnostic procedure for thyroid tissue sampling. The main differential diagnosis is anaplastic thyroid carc...

Introduction: There are several endocrine causes of hyponatremia. SIADH is perhaps the most challenging, as patients do not always respond to initial correction measures and pharmacological treatment options are scarce. Urea is a viable option, but not commonly used.Methods: Analysis of patients with SIADH-induced hyponatremia (<135mEq/l) treated with urea per os in the Portuguese Institute of Oncology of Porto between August 2021 and Octobe...

Introduction: Nonislet cell tumour hypoglycemia (NICTH) is a rare complication of malignancy. The most common cause is overproduction of IGF2, which activates insulin receptors, resulting in hypoinsulinemic hypoglycemia. When a solitary fibrous tumor is responsible, it is called Doege-Potter syndrome.Case 1: 58-year-old woman, with a history of gastrointestinal stromal tumor and pleural solitary fibrous tumor with pulmonary and lymph node metastases. She...