Endocrine Abstracts

Introduction: Pancreatic neuroendocrine tumors (PNET) are rare, with an incidence of 1/100,000/year. Chromogranin A (CgA) is the most valuable marker in the diagnosis and monitoring of PNET. One of the disadvantages is its low specificity and the existence of a number of processes leading to an increase in its concentration, which often results in confusion and diagnostic difficulties.Case report: We present a 44-years-old female patient...

Introduction: Many causes of malabsorbtion of levothyroxine (LT4) in patients with hypothyroidism have been thoroughly described in literature. Pseudomalabsorption, poor compliance of the patient is most common cause of failure of LT4 and/or liothyronine (LT3) treatment.Case report: 27 years old woman, normopondeal, presented from the age of 11 years for short stature. Further investigations found pluritrope pituitary insufficiency ...

Introduction: Adrenal glands are common sites for secondary lesions derived from malignant tumours (lymphoma, melanoma, renal, breast, colon, and bronchopulmonary cancer). Patients with adrenal secondary lesions are typically asymptomatic but 1% may present with adrenal insufficiency as a first manifestation. We report the cases of two males with lung adenocarcinoma, first presented with acute adrenal insufficiency.Cases presentation: Case 1: LC, 65 year...

Introduction: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case prese...

Introduction: Several autoimmune determinations have been reported in association with autoimmune thyroidits (AIT). While the classical correlations with other endocrine or general autoimmune diseases like pernicious anemia or vitiligo are frequent and well defined, there are fewer data on other rarer associations, as with celiac disease (CD). In the absence of typical clinical symptoms this association may be overlooked, as in the case we present.Case p...

Introduction: Although, the relationship between pathological process of the parathyroid and thyroid is common, concurrence of primary hyperparathyroidism (pHPT) and papillary thyroid carcinoma (PTC) is extremely rare, probably because, unlike with medullary thyroid cancer, they have not a common embryologic origin. We present a case with this uncommon association.Case report: A 67-year-old woman with multinodular goitre was addressed in endocrinology fo...

Introduction: Breast neuroendocrine carcinoma is a rare aggressive neuroendocrine tumour (NET) and the research on this subject is poor. Only seven studies were cited in the literature. Incidence in the population has not been reported, but the prevalence is under 0.1% of all breast carcinomas.Case report: AV, 72, is hospitalised for bone pain and significant weight loss (15 kg in 2 months). Patient’s previous history are: diabetes, hypertension, no...

Pancreatic neuroendocrine tumors (pNET) represent 1.3% of pancreatic tumours, ~65% patients presenting with metastatic/unresectable disease. Clinically, pNET may be asymptomatic, accompanied by carcinoid syndrome or abdominal pain.Patient N.A. aged 73, with a history of hemorrhagic pancreatitis, was diagnosed in 2003 with a hyperechoic heterogeneous solid pancreatic tumour of 28/28 mm. No therapy/monitoring were proposed. After 7 years of asymptomatic ev...

Pseudohypoparathyroidism (PHP) is an uncommon sporadic or inherited genetic disorder subdivided into several distinct entities characterized by parathyroid hormone (PTH) resistance in association with distinctive skeletal and developmental defects.We report a case of a 7 years and 8 months old boy, evaluated at the Endocrinology Department of ‘St Spiridon’ Hospital Iasi in January 2013, who had a history of hypothyroidism diagnosed at the age o...

Introduction: Cornelia de Lange Syndrome (CDLS) a relatively uncommon genetic disorder diagnosed mainly by clinical features: distinctive facial features, developmental delay, hirsutism, mental retardation and structural abnormalities. Most cases are due to spontaneous mutations (NIPBL on chromosome 5, SMC1A on X chromosome, and SMC3 on chromosome 10). Short stature in CDLS is due to GH deficiency and resistance.Case report: We present a 9-year-old girl,...