Endocrine Abstracts

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...

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...

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...

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...

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 ...

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...

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,...

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...