Searchable abstracts of presentations at key conferences in endocrinology

ea0020p525 | Paediatric Endocrinology | ECE2009

LEOPARD syndrome and pilocytic astrocytoma: a random association?

Vulpoi Carmen , Rusu Cristina , Zenker Martin , Poeata Ion , Constantinescu Aurora , Indrei Anca , Stoica Ioana , Zbranca Eusebie

Leopard syndrome (LS) is a rare autosomal dominant disease of variable penetrance and clinical expression. LEOPARD is an acronym for the major features of the disorder: lentigines, ECG conduction abnormalities, Ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness. LS is caused by different mutations in PTPN11 gene (protein-tyrosine phosphatase, nonreceptor-type, 11), allelic with Noonan syndrome (NS). The diagnosis is established if...

ea0049ep1073 | Pituitary - Clinical | ECE2017

Aggressive macroprolactinoma – exception to the rule

Belceanu Alina Daniela , Constantinescu Georgiana , Crumpei Iulia , Bursuc Anamaria , Rotariu Daniel , Constantinescu Aurora , Ciubotaru Vasile , Preda Cristina , Vulpoi Carmen

Background: Prolactinoma is the most frequent pituitary tumour. However, peculiar aspects may induce difficulties in their evolution and management. Malignant prolactinoma is exceptionally rare and it cannot be diagnosed on histological grounds alone. We report the case of a recurrent, possibly malignant macroprolactinoma.Case report: 46 years old female, addressed for bitemporal hemianopia, without other clinical signs. MRI confirmed a pituitary macroad...

ea0049ep1076 | Pituitary - Clinical | ECE2017

Pituitary adenoma and elevated ACTH: not always corticotrophinoma

Cabac Mariana , Belceanu Alina Daniela , Crumpei Iulia , Tirnovan Mirela , Constantinescu Georgiana , Bursuc Anamaria , Constantinescu Aurora , Mogos Voichita , Vulpoi Carmen

Introduction: Hypothalamic┬ľpituitary┬ľadrenal (HPA) axis activation is the main neuroendocrine response to an environmental challenge. Drug abuse may activate HPA axis by interaction with neuromodulation systems.Case report: 28 year old man, was admitted in the Neurology Department for persistent headache with spinal irradiation. With suspicion of multiple sclerosis, MRI revealed pituitary macroadenoma (14 mm diameter) and subcortical, paraventr...

ea0041ep304 | Clinical case reports - Pituitary/Adrenal | ECE2016

Association of two aggressive tumors (prolactinoma and multiple meningioma) – difficult issue, difficult management

Constantinescu Georgiana , Belceanu Alina , Haba Danisia , Constantinescu Aurora , Rotariu Daniel , Bursuc Anamaria , Armasu Ioana , Preda Cristina , Vulpoi Carmen

Introduction: The coexistence of pituitary adenoma and meningiomas is very rare. It is debatable if meningiomas result as a consequence of hormone dependent growth or secondary to radiation.We report a rare case of coexisting brain tumors: a prolactin secreting pituitary adenoma and two meningiomas in a 54-year-old female patient.Case report: Onset at 46 years with bitemporal hemianopsia, without other clinical complaints. MRI conf...

ea0035p815 | Paediatric endocrinology | ECE2014

Short stature and carnitine deficiency: the hidden connection

Bodescu Ioana , Constantinescu Aurora , Alexianu Marilena , Idriniceanu Jeanina , Vasiliu Ioana , Manolachie Adina , Fadur Alina Daniela , Leustean Letitia , Mogos Voichita , Vulpoi Carmen

Introduction: Lipid storage myopathy (LSM) is characterized by increased lipid droplets in muscle fibers. Primary carnitine deficiency is the most frequent cause of LSM, clinical presentation ranging from asymptomatic to progressive muscle weakness or cardiomyopathy, carnitine supplementation being effective with remission of symptoms.Case report: In February 2007 R.A. born in 1996 presented progressive muscle weakness with elevated muscular enzymes (LDH...