Endocrine Abstracts

IntroductionIn Klinefelter syndrome, hypergonadotropic hypogonadism is the most prominent endocrine-metabolic disorder. However, a higher prevalence of cardiovascular risk factors has also been reported.ObjectivesIn a sample of individuals with Klinefelter Syndrome (KS): – to document the diagnostic context; – to assess the prevalence of cardiovascular risk factors (CVRF) and compare it with a contr...

BackgroundAlthough rare, hypoglycaemia in patients without history of diabetes should be recognized and studied, in order to reduce associated morbidity. Cotrimoxazole (TMP/SMX) is commonly used in clinical practice and hypoglycaemia is a rare side effect associated with its use. Literature advocates that this effect is due to the fact that SMX has the same sulphanilamide structural group of sulfonylurea, mimicking the hypoglycaemic effect by stimulating...

IntroductionNoonan syndrome can result from different mutations, the most frequent being in PTPN11. The diagnosis is often made by the clinical picture of short stature, facial dysmorphisms and heart defects. From an endocrine point of view, growth retardation, hypogonadism and a higher frequency of thyroid autoimmunity are highlighted.ObjectivesTo analyse endocrine features in patients with Noonan syndrome (...

Introduction: Hypoparathyroidism treatment is aimed to achieve a serum calcium at the lower limit of normal providing symptom resolution and preventing complications such as urolithiasis and renal impairment. Milk-alkali syndrome (MAS) incidence has been gradually rising associated with the increase of calcium carbonate and vitamin D supplementation. The classic triad is characterized by metabolic alkalosis, hypercalcemia and renal failure.Case report: A...

Introduction: The aim of this study was to evaluate potential alterations in prolactin receptor gene expression (Prlr) in the duodenum, vertebra, and kidney - key organs in calcium metabolism, across the aging process.Methods: Wistar female rats were divided into: Group A (10 rats, 5 weeks old), Group B (10 rats, 18 weeks old) and Group C (7 rats, 21 weeks old). Laboratory analysis included: prolactin, serum ionized calcium, phosphorus, urinary ...

For the diagnosis of hyperinsulinemic hypoglycemia (HH), it is necessary that in symptomatic hypoglycemia in the fasting test the insulin/glucose ratio is >0.3, or that in spontaneous hypoglycemia there are C-peptide >0.6 nmol/l and insulin >3.0 mIU/ml. It is a well-known fact about the increasing frequency of hypoglycemia after bariatric surgery (estimated up to 30% of patients), mostly within the Dumping syndrome, but the frequency of occurrence of noninsulinoma ...

Background: Immune checkpoint inhibitors (ICI) are an innovative oncologic therapy used in several types of solid and hematological neoplasms. This treatment enables the antitumoral immune system response and results in significant improvement of clinical outcomes and survival rate. However, endocrine related adverse effects (ERAE) have been related, with thyroid and pituitary dysfunction being the most common endocrine diseases described. An association between the surge of e...

Introduction: The height growth is regulated by multiple factors, including specific genetic mutations that ensure correct differentiation and proliferation of chondrocytes. We present a case of double association of haploinsufficiency of the SHOX gene with a mosaic 45,X/46,X,r(Y) karyotype responsible for growth and pubertal delay.Case: Male patient, observed in endocrinology consultation at age of 12, with constitutional delay of grow...

Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. 90–95% of the cases are originated by deficits in 21-hydroxylase and, in about 75% of the cases, there is evidence of mineralocorticoid deficiency.Case report: A 37-year-old patient was referred to an Endocrinology departm...

Introduction: Acromegaly is a chronic disease caused by excess growth hormone (GH) release from an adenoma caused by somatotroph cells of pituitary gland.In acromegaly, it is known that the risk of thyroid and colon cancer is increased 8 and 4 times, respectively, compared to the normal population.Moderate hypercalcemia, due to vitaminD activation, is seen in acromegaly, but overt hypercalcemia, generally secondary to primary hyperparathyroidism, is rare.Combination of acromeg...