Endocrine Abstracts

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...

Neurofibromatosis type 1 (NF1) is an inherited disorder characterized by formation of neurofibromas in the skin, brain and other parts of the body, in association with skin pigment changes. It is well known that this condition may be a risk factor for short stature with growth hormone deficiency (GHD) in children, due to suprasellar lesions. We present the case report of a 9-year-old boy admitted in our Service for short stature (-2DS). Physical examination revealed ‘caf&...

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 ...

Introduction: The adipocyte expansion is a critical process with implications in the pathogenesis of metabolic syndrome and insulin resistance associated to obesity. Impaired adipogenesis leads to dysfunctional, hypertrophic adipocytes, chronic low grade inflammation and insulin resistance.Methods: Our study included 18 obese patients (13 females and 5 males) mean age 38.76±8.89 years and mean body mass index 46.06±6.48 kg/m2, referred for Lapa...

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.</...

Recurrent hypercalcemia after successful parathyroidectomy has been reported to be higher than previously thought. Most cases are transient and often associated with other factors, with only a minority requiring treatment. Multidisciplinary diagnosis is necessary to prevent persistence and recurrence. A 55-year-old female patient with a history of surgical removal of a right parathyroid adenoma four years prior, lost from follow-up, was referred to our clinic for persistent as...

Introduction: Turner syndrome (TS) is a chromosomal disorder that arises due to the complete or partial loss of one sex chromosome, impacting approximately 1 in every 2500 to 3000 female births. The phenotype is attributed to haploinsufficiency of genes on the X chromosome, which are resistant to inactivation. Virilizing symptoms appearing in a patient with TS advocates for an endocrine assessment and karyotyping to ascertain the virilization’s etiology, enabling prompt i...