Endocrine Abstracts

Background: Chromogranin A (CgA) is the most abundant granin in gastroenteropancreatic neuroendocrine tumors (GEP-NETs). As a tumor marker is moderately sensitive and nonspecific. Meningiomas are benign brain tumors that are usually to recur. Studies have shown in vitro and in vivo that meningiomas, regardless of histology and classification, express somatostatin receptors (SSTRs). GA68-DOTATATE PET is an exciting imaging modality that has shown significant a...

Background: X-linked adrenoleukodystrophy (X-ALD) is a hereditary disease that occurs in boys in childhood and adolescence, with cases being rarer in adulthood. Primary adrenal insufficiency (PSI) is present in more than 50% of patients and in 10% it is the only manifestationCase report: 24-year-old male, diagnosed with primary adrenal insufficiency as a child. The pathological history included dyslipidemia, obesity, prediabetes and parietospastic gait a...

Background: Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems and nephrolithiasis/nephrocalcinosis (1). Children with hypophosphatemic rickets present poor growth, deformities of weight-bearing limbs such as genu varum or valgus, a ‘rachitic rosary’ invo...

Background: heterophilic antibodies are antibodies in patients’ sample that can cause false results by binding to the assay antibodies. Interference due to heterophilic antibodies may lead to falsely low or high analytic concentrations. In some settings, the relationship between TSH and thyroid hormones does not fit with the expected feedback mechanisms. This may be due to a pathophysiological process, laboratory error or assay interference.Case rep...

Thyroid hormone resistance (THR) is a rare dominantly inherited syndrome characterized by a reduced response of target tissues to thyroid hormone receptor. In most cases, THR is related to mutations in the thyroid hormone receptor beta gene (THRb). Management may be challenging in cases of gestation. Here we report the case of a pregnant patient with a possible not previously described mutation and negative genotype fetus.Case report: Thirty-two year old...