Endocrine Abstracts

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: Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by hyperphagia with progressive obesity, dysmorphic features, hypotonia, mental retardation, behavioural abnormalities and endocrine dysfunctions as hypogonadism and growth hormone (GH) deficiency. PWS is the most commonly identified genetic cause of obesity.Methods: We reviewed five cases of confirmed PWS (three female and two male patients, aged between 8 and 32 years...

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: ACTH resistance syndromes are rare, autosomal and genetically heterogeneous diseases that include familial glucocorticoid deficiency and triple A syndrome. These are characterised by early onset of primary adrenocortical insufficiency associated with hypoglycaemia, convulsions and skin pigmentation.Case report: We present the case of primary adrenal failure in a boy diagnosed at the age of four, during a decompensation episode with hypoglyc...

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...

We present the case of 13 years old boy referred to our service in June 2013 for bilateral gynecomastia (appeared for ~1 year). The boy’s father presented delayed puberty (at 18-year-old). No other pathological hereditary conditions were reported.Clinical examination revealed: gynoid status with height =167 cm (−1.4 DS), weight=63.5 kg, important bilateral gynecomastia with hypo pigmented areola and painful palpation. Sexual development was PI...

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...