Endocrine Abstracts

Growth hormone deficiency leads to profoundly decreased growth velocity and, when untreated, to pituitary dwarfism. We evaluated growth evolution for one to four years under rGH therapy (0.07 IU/kg/day, subcutaneously) at seventeen idiopathic pituitary dwarves with isolated GH deficiency, 13 boys and 4 girls, with a wide span of age at therapy onset (between 4 and 24 years old). Diagnosis was set subsequent to at least two negative GH stimulation tests. All patients were pre-p...

Hypokalemic periodic paralysis is an uncommon complication of thyrotoxicosis especially in Caucasian women. It is most frequent in east asian and Japanese males and is characterized by recurrent episodes of motor weekness of variable intensity associated with hyperthyroidism. It is usually associated with low plasma potassium levels and is often precipitated by physical activity. This condition is a self limiting disorder that is cured by the treatment of the underlying hypert...

Thyroid dysplasia (ectopy, hypoplasia or aplasia) is a common cause of congenital hypothyroidism. Lingual thyroid is a rare embryological aberration caused by failure of migration of the thyroid gland to its normal position in the neck.This retrospective study involved 30 patients with lingual thyroid diagnosed in our Department between 1970–2005. The diagnosis was based on physical examination, evaluation of the mental development (IQ) and following tests:TSH, fT4, ultra...

Introduction: The Waterhouse–Friderichsen syndrome is a fulminating infection, often leading to mortality in a matter of hours by producing acute adrenal insufficiency (adrenal hemorrhage) at a time when their response is crucial to address acute stress.Case report: We present the case of a 4 months boy with high fever 40 °C, vomiting, diarrhea, lethargy, maculopapular rash followed by petechiae and purpura. Biological tests revealed important ...

Brown tumors (BT) consist of focal bone lesions, caused by increased osteoclastic activity and fibroblastic proliferation. They appear in chronic kidney disease (CKD) as a result of renal osteodystrophy with high bone turnover, due to secondary hyperparathyroidism. BT are composed of mononuclear stromal cells mixed with multinucleated giant cells and hemosiderin deposits, which give the characteristic brown colour. We present the case of a 13-year-old girl, with end-stage CKD ...

Gastrointestinal stromal tumors (GIST) are in high risk of developing additional malignancies, hereditary and also nonhereditary kind. Genetic changes are involved in the formation of GIST, about 80% are associated with KIT gene mutation and 10% of cases are associated with PDGFRA gene. These two mutations are found in both familial and sporadic GIST. We report a 65 years old female patient with a history of surgery for gastric GIST (T2N0). During the follow-up, after 4 years,...

The association between primary hyperparathyroidism and pheochromocytoma is present in multiple endocrine neoplasia type 2A (MEN 2A) along with medullary carcinoma or it can be a simple simultaneousness. The presence of the genetic mutation is mandatory in order to have a positive diagnosis of MEN. We report the case of a female patient 63 years old admitted in our department for a large adrenal incidentaloma (10 cm) with no clinical signs of adrenal dysfunction. An adrenal bi...

Introduction: Chronic kidney disease (CKD) is associated with alterations in endogenous glucocorticoid regulation through various mechanisms: longer plasma cortisol half-life, reduced renal cortisol clearance, loss of 11b-HSD type 2 activity in the kidney contributing to an elevated cortisol/cortisone ratio, less effective hepatic metabolism of cortisol and, finally, hyperactivation of the hypothalamus-pituitary-adrenal axis due to acidosis, chronic stress, and inflammation.</...

Introduction: Craniopharyngiomas are rare tumors which are typically located in the sellar and suprasellar region. They can be solid or mixed, cystic-epithelial. Treatment options include surgery, radiation or intracystic therapy. Adipsic diabetes insipidus is a rare, life-threatening disease which can sometimes be associated with craniopharyngioma, either because of tumor mass effect, or as a postprocedure complication. Ultimately, this can cause severe hypernatremia, so long...

Introduction: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy arising from the adrenal cortex often with unexpected biological behavior. It can occur at any age, with two peaks of incidence: in the first and between fifth and seventh decades of life. Although ACC are mostly hormonally active, precursors and metabolites may be also produced by dedifferentiated and immature malignant cells.Case report: We report a rare and challenging case of...