Endocrine Abstracts

Introduction: Adrenal incidentalomas are a frequent finding (1.4-7.3% on abdominal CT) and increasingly common with age, obesity, diabetes and hypertension. When approaching adrenal masses, clinicians should exclude malignancy and hormonal hypersecretion. Black adrenal adenomas (BAA), first reported in 1938, are rare benign adrenocortical tumours with black/brown appearance, containing lipofuscin. Most are non-functional, rarely inducing hypercortisolism. We present a case of ...

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease. Mutations in various genes have been implicated in its pathophysiology, the most frequent being ANOS1, FGFR1 and GNRHR genes. FGFR1 is essential for cell proliferation, differentiation and migration during embryonic development and is involved in GnRH neuron development and maintenance. Klotho-beta protein (KLB) is expressed in the postnatal hypothalamus and is t...

Introduction: Milk-alkali syndrome is defined by the triad hypercalcemia, metabolic alkalosis and renal impairment, due to intake of calcium salts and absorbable alkali. It is the 3rd leading cause of hypercalcemia but often underdiagnosed. Patients with chronic hypoparathyroidism after total thyroidectomy have increased risk for this potentially life-threatening complication and its epidemiology is unclear. We present a case of milk-alkali syndrome in a patient with chronic h...

IntroductionHypogonadotropic hypogonadism (HH) is a rare disease. When associated with anosmia/hyposmia, it is called Kallmann syndrome (KS). Several mutations in different genes have been implicated in its pathophysiology, the most frequent being ANOS1/KAL1, FGFR1 and GNRHR genes. This heterogenicity can be explained by the increasing detection of more than one pathogenic variant in the genes responsible for causing the disease (oligogenism). The preval...

IntroductionPrimary ovarian insufficiency (POI) occurs in 1% of women between puberty and 40 years old. Despite being idiopathic in 74–90% of the cases, there are other etiologies, such as genetic causes (in up to 16% of cases). Triple-X syndrome (TXS) is a common (estimated incidence of 1/1000 women) but frequently undiagnosed chromosomal abnormality. Most women are phenotypically normal, despite this fact, POI can still develop. We present a case ...

Introduction: Fine needle aspiration cytology(FNAC) is the mainstay for evaluation of nodular thyroid disease. Internationally reported prevalence for Bethesda I(unsatisfactory sample) category is 5-60%. Several factors may determine this result, including patient and nodules’ features as well as both FNAC performer and pathologists’ skills. Few studies have evaluated pre-procedure factors associated with unsatisfactory cytology results. If present, recognizing these...

Introduction and objectives: Lenvatinib is the first line treatment for advanced radioiodine refractory (RAIR) differentiated thyroid carcinoma (DTC). Poorly differentiated thyroid carcinoma (PDTC) outcomes with Lenvatinib have only been subjected to sub analysis in one PHASE III study (SELECT), which might limit its real-world use in PDTC. We intend to compare the effectiveness of Lenvatinib in metastatic RAIR DTC and PDTC patients.Methods: Retrospectiv...

Introduction: Immunotherapy has demonstrated a key role in the current individualized treatment of multiple neoplasms, with adverse events related to the endocrine. Thyroid dysfunction is the most frequent reported endocrine event during treatment with pembrolizumab, being autoimmune diabetes an extremely rare adverse effect.Case Report: We present a case of a 72-year-old man with a progressing urothelial bladder carcinoma (stage IIIB), under treatment w...

Introduction: Monosomy 18q represents a partial deletion of the long arm of chromosome 18, with an estimated prevalence of 1:100 000. This syndrome is characterized by a highly variable phenotype. The symptoms and their severity depend on which part of the chromosome is missing. Most common manifestations are hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic fa...

Introduction: Current guidelines recommend a single prolactin sampling for the diagnosis of hyperprolactinaemia. Nonetheless, in some patients, prolactin levels may normalize in a subsequent sampling or if prolactin is collected through a venous catheter some time after puncture. We aimed to assess the percentage of patients in which prolactin remained elevated in repeated sampling and to determine the best prolactin cutoff associated with persistent hyperprolactinaemia.<p...