Endocrine Abstracts

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: Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by hypercalcemia due to an unregulated overproduction of parathyroid hormone (PTH). PHPT is most commonly caused by a single adenoma of the parathyroid gland, usually located just behind the thyroid gland. However, in rare cases, they can have an ectopic location, including intrathyroid adenomas. In some cases, the measurement of intact PTH in the wash out fluid obtained by US-Fine Ne...

Introduction: Germ cell tumors (GCTs) are classified as extragonadal if there is no evidence of a primary tumor in the gonads. They typically occur in the midline structures. Newly diagnosed adult cases of pituitary or pineal glands germinomas are very rare since most of the cases are diagnosed in the mid teens, presenting 14:1, on behalf of the male gender. The estimated incidence of this tumor in western countries is between 0.4–3.4%, being more frequent in the Asia.</p...

Introduction: Our group has a bank of human primary thyroid cultures (BANTTIC) obtained from patients. All are individual cultures specifically genotyped and phenotyped. We believe of great interest the search for biomarkers in these cultures using differential proteomic analysis.We have applied differential proteomics using 2D-PAGE coupled to MALDI-TOF-TOF-MS. We have compared benign pathologies (normal thyroid and Pendred’s syndrome) and different...

Introduction: About 50% of patients with medullary thyroid carcinoma (MTC) have persistent or recurrent disease after surgery.For a calcitonin (ct) value greater than 150 pg/ml, it is suggested by international guidelines performing additional imaging exams (AIE) for evaluating the presence of distant metastasis. It is often difficult to assess the presence of nodal disease and secondary liver lesions (often miliary) by ‘morphological’ imaging ...

Introduction: Insulinomas are the most common form of functioning pancreatic neuroendocrine tumors (NET) with an estimated incidence of 1–3/million per year. Less than 10% are malignant and rarely with distant metastases, carrying a poor prognosis.Case report: We report a case of a 73-years-old woman attended at our ER for recurrent syncope, with irrelevant medical history. Several radiology exams were preformed, revealing numerous liver metastases ...

Introduction: Precocious pubarche is defined as pubic hair onset before age eight in girls and age nine in boys. In 5–20% of cases the cause is late-onset congenital adrenal hyperplasia (LO-CAH), which is due mainly to non-classic 21-hydroxylase deficiency. If not promptly diagnosed, it can lead to accelerated bone maturation, short final height, and in adulthood to severe acne, hirsutism and infertility.Case report: Adolescent male, 15 years-old, h...

Up to now there are few studies about differential proteomics in thyroid. Our group has developed a method for standard human primary thyroid culture maintaining the phenotype through passages. Thus, we believe of great interest the search for biomarkers in these cultures by 2D-PAGE coupled to MALDI-TOF/TOF-MS.Aims: i) To standardize the conditions for sample extraction and controls. ii) To compare and identify the differential proteomic pattern between ...

Methimazole-induced cholestatic jaundice is a rare adverse effect, dose-dependent, occurring within the first 3 months of use, usually reversible within 3 months after discontinuing drug therapy.Case report: Woman, 64 years, history of hyperthiroidism since August 2009, under therapy with methimazole 5 mg/day. The patient was referred to endocrinology department in March 2010, with history of heart failure, atrial fibrillation, type 2 diabetes mellitus, ...