Searchable abstracts of presentations at key conferences in endocrinology

ea0035p795 | Paediatric endocrinology | ECE2014

A case of velocardiofacial syndrome with short stature associated with partial GH deficiency

Planton Emilia , Rusu Cristina , Mogos Voichita , Branisteanu Dumitru

Introduction: Velocardiofacial syndrome (VCFS) also known as DiGeorge or chonotruncal anomaly face syndrome, is a rare genetic disease caused by a microdeletion in the long arm of chromosome 22, having a prevalence of approximately 1:7000 to 1:4000. VCFS has a wide spectrum of more than 200 physical manifestations including: cleft palate, heart and facial abnormalities, eye pathology, problems with feeding, including nasal regurgitation, middle-ear infections (otitis media), l...

ea0049ep813 | Paediatric endocrinology | ECE2017

A very rare case of 48, XXYY syndrome

Alexandra Ambarus Popovici Ioana , Rusu Cristina , Andreea Oprea Alina , Feraru Laura , Balaceanu Raluca , Preda Cristina

Introduction: 48, XXYY is a rare sex chromosome aneuploidy, being estimated to occur in 1:18000–1:40000 male births. Phenotypically it was considered a variant of Klinefelter syndrome (47,XXY), but currently, due to mental deficiency and behavioural characteristics associated, it’s considered to be a separated genetic condition.Case report: We report a case of a 8-year-old boy, first child of a young non-consanguineous couple, born at term. Due...

ea0032p903 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Efficacy of hGH treatment in pituitary dwarfism- age does matter

Idriceanu Jeanina , Vasiliu Ioana , Popovici Ramona , Bodescu Ioana , Rusu Cristina , Mogos Voichita , Vulpoi Carmen

Introduction: The spectrum of GH deficiency (GHD) in children ranges from complete deficiency, with severe growth retardation, to partial deficiency, with slightly short stature. The administration of GH to children with GHD improves linear growth, mainly during the first 2 years of treatment.Patients and methods: The study analyzes pattern of growth in 35 children (24 boys, 11 girls) with GHD, in the first year of treatment with hGH. There were three gr...

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...

ea0081ep1206 | Late Breaking | ECE2022

The impact of gh treatment in turner syndrome

Hrisca Anamaria , Dumitru Teodora , Andrei Diana , Florescu Alexandru , Leustean Letitia , Rusu Cristina , Preda Cristina , Ungureanu Maria Christina

Introduction: The treatment with growth hormone (GH) plays an essential role in the Turner syndrome (TS) management. This study evaluated its efficacy in improving adult height (AH) and metabolic parameters.Material and methods: We retrospectively analysed auxological, biochemical, genetic and pharmacological parameters of 56 girls with confirmed TS. They were categorised according to their karyotype as X monosomy (62%), isochromosome (17%), X mosaicism ...

ea0037ep635 | Obesity and cardiovascular endocrinology | ECE2015

Therapeutic education contributes to minimise excess weight in Prader-Willi syndrome

Stefan Roxana , Rusu Cristina , Armasu Ioana , Belceanu Alina , Braha Elena , Gorduza Carmen , Mihai Bogdan , Lacatusu Cristina , Negru Mihaela , Vulpoi Carmen

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...

ea0037ep824 | Pituitary: clinical | ECE2015

A rare case of GH deficiency: mucolipidoses type II/III

Braha Elena , Armasu Ioana , Rusu Cristina , Raileanu Daniela , Manolachie Adina , Constantinescu Georgiana , Puiu Mirela , Stefan Roxana , Vulpoi Carmen

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...

ea0035p819 | Paediatric endocrinology | ECE2014

Pseudohypoparathyroidism: challenging diagnosis due to autism and epileptic seizures

Idriceanu Jeanina , Rusu Cristina , Bodescu Ioana , Vasiliu Ioana , Manolachie Adina , Fadur Alina Daniela , Preda Cristina , Mogos Voichita , Vulpoi Carmen

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...

ea0041ep371 | Clinical case reports - Thyroid/Others | ECE2016

A girl with Cornelia de Lange syndrome with good response on GH therapy: case report

Zmau George-Sebastian , Beleceanu Alina Daniela , Rusu Cristina , Braha Elena , Ungureanu Maria-Christina , Stefan Roxana , Manolachie Adina , Armasu Ioana , Constantinescu Georgiana , Vulpoi Carmen

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,...

ea0035p814 | Paediatric endocrinology | ECE2014

Differences in skeletal development and growth in children with Noonan syndrome

Fadur Alina Daniela , Rusu Cristina , Anton Mihaela , Bodescu Ioana , Manolachie Adina , Idriceanu Jeanina , Vasiliu Ioana , Ungureanu Maria-Christina , Mogos Voichita , Vulpoi Carmen

Background: Noonan syndrome (NS) is a genetic multisystemic disorder secondary to mutations in Ras/MAPK pathway, essential for cell’s differentiation and growth, patients associating short stature and skeletal anomalies. We describe the alterations in bone development and growth in five children with NS, four of which received treatment with recombinant human GH (rhGH).Methods: We reviewed the cases of five children with NS (three boys, two girls, a...