Endocrine Abstracts

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...

Introduction: Klinefelter syndrome (KS) represents the most common cause of hypergonadotrophic hypogonadism, with an estimated prevalence of 1:500 to 1:1000 men. This syndrome is characterized by the presence of an additional X chromosome. Eighty percent present with a 47,XXY karyotype and the remaining 20% present with a 47,XXY/46,XY mosaic or with multiple X chromosome aneuploidies, often with additional Y chromosomes. The presence of a 47,XXY/46,XX mosaic with male phenotyp...

Introduction: The Quervain’s disease is an infrequent subacute thyroiditis (ST) that results in granulomatous infiltration of the gland’s parenchyma. Is usually diagnosed clinically based on cervical pain, systemic symptoms, altered thyroid function tests (TFTs) and history of upper respiratory tract infection. It is a benign self-limited condition that may share US features with malignancy which may result in improper therapy, including lobectomy.<p class="abs...

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...

Introduction: Women with gestational diabetes (GD) have an increased risk of developing future type 2 diabetes mellitus (T2DM). A reclassification oral glucose tolerance test (OGTT) is currently recomended in the postpartum period. However, most studies report a compliance rate below 50% and as low as 23%.Objectives: We aimed to study predictors of missing postpartum OGTT in women with GD.Materials and Methods: Retrospecti...

Background: Overt thyroid dysfunction is associated with an increased cardiovascular risk. The impact of subclinical hypothyroidism and autoimmunity in the increased cardiovascular risk remains controversial. Aim: To evaluate the interrelations between thyroid function, thyroid autoimmunity and cardiovascular risk factors, in patients with autoimmune thyroiditis (AIT).Methods: 353 subjects with AIT were evaluated. We defined three groups based on TSH lev...