Endocrine Abstracts

Introduction: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) predispose humans to pituitary adenomas, mostly GH and sometimes prolactin-secreting adenomas. Rodent models of heterozygous AIP loss provided mixed results, with little phenotype in heterozygote global knockouts to 80% in somatotroph-specific homozygote knockout animals. However, human patients with an AIP mutation often have mixed GH-PRL adenomas and, in a smaller pr...

Introduction: Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) predispose humans to pituitary adenomas, mostly GH and sometimes prolactin-secreting adenomas. Rodent models of heterozygous AIP loss provided mixed results, with little phenotype in heterozygote global knockouts to 80% in somatotroph-specific homozygote knockout animals. However, human patients with an AIP mutation often have mixed GH-PRL adenomas and, in a smaller pr...

Introduction: Excess GH in acromegaly has lipolytic action and detrimental effect on glucose metabolism and insulin signaling. Recent studies have suggested a specific lipodystrophy in patients with acromegaly. Paradoxically, although the visceral adipose tissue (VAT) and intrahepatic lipid were reduced in active acromegaly compared to controls, insulin resistance was increased. Fat was redistributed from subcutaneous and visceral depots to muscle; weight and VAT depots rose w...

Introduction: Typical and Atypical bronchial carcinoids (TBC and ABC) are rare neuroendocrine neoplasms (NEN). TBC are low grade and well-differentiated NEN often with indolent clinical behavior, slow growth, rare extra-thoracic metastases, and with a long survival following surgical resection. Conversely, ABC have often a worse prognosis with a greater tendency to metastasize and recur. A better understanding of TBC and ABC genetic background would help in evaluating prognosi...

Extraadrenal paraganglioma is a rare tumor. The clinical and pathological findings of patients with abdominal localization paragangliomas (perihepatic, paraaortic, interaortocaval and retroperitoneal) are described. Its characteristics and diagnostic imaging are analyzed, as well as its therapeutic management. Between January 2021 and January 2022, 3 patients with extra-adrenal paragangliomas were diagnosed, all of them women. The age of our patients was 26, 57 and 67 years. T...

Introduction: Sporadic primary hyperparathyroidism (sporadic PHPT) is a common endocrine disorder, usually caused by a single parathyroid adenoma. However, up to 15% of patients present with multiple gland disease (MGD), which cannot be always diagnosed preoperatively, raising serious management problems. No predictive genetic screening tests are currently available to distinguishing adenomas from MGD in sporadic PHPT. MiRNAs are widely established as genetic molecules that ha...

Introduction: Ultrasound is the main diagnostic tool for imaging pathology of the thyroid gland. The TI-RADS classification allows the evaluation of a risk of malignancy in the case of thyroid nodules, indicating the need to perform a puncture for a histological study. Bethesda system classifies them according to the cytological malignancy risk. Bethesda category 3 (B3) comprises ‘follicular lesion of undetermined significance’ or ‘atypia of undetermined signifi...

Pituitary stalk interruption syndrome (PSIS) is a rare clinical entity characterised by an absent or thin pituitary stalk, hypoplasia of the anterior pituitary gland, and ectopic location of the posterior pituitary on magnetic resonance imaging (MRI). Presentation is on early childhood or puberty and the most common hormonal deficiencies are growth hormone (GH) and gonadotropines. We present the case of a 28-year-old female patient who consulted after 2 years in secondary amen...

Objective: Cushing’s disease (CD) accounts for approximately 80% of cases of Cushing’s syndrome. Diagnosis of CD is difficult, it is carried out with a screening test and confirmation test. The aim of this study is to describe the diagnostic results of the different diagnostic tests used in the diagnosis of CD in our environment.Patients and methods: Retrospective descriptive study of patients with CD. We included all patients diagnosed with CD...

Background: Cushing syndrome (CS) represents a challenging disease. The major difficulty is to distinguish between the two main etiologies of ACTH-dependent hypercortisolism. However, in rare cases, the concomitant presence of both an ACTH-dependent and a primary adrenal disease should be considered.Case report: We evaluated a 67-year-old woman for a severe ACTH-dependent CS (midnight serum cortisol 332 ng/ml; urinary free cortisol [UFC] 3000 mcg/day; co...