Endocrine Abstracts

Introduction: Hirata disease (or Insulin autoimmune syndrome) is characterized by the presence of high concentrations of insulin autoantibodies leading to hyperinsulinemic hypoglycemia in individuals with no history of prior exposure to exogenous insulin. Etiopathogenesis is not completely elucidated, it’s considered to result from the interaction of genetic predisposition and environmental triggers such as: medications (methimazole, carbimazole, alpha-lipoic acid, captop...

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: Usually, the hormonal profile is normal in patients with empty sella. However, when present, hormonal deficiency most commonly consist in growth disturbance in children and mild hyperprolactinaemia in adults. Hypopititarism with signs of symptomatic dysfunction occurs in <10% of patient with primary empty sella.Case report: A 27-years-old man presented to our department in 2008 with impuberism, micropenis, hypoplasic scrotum, inguinal g...

Introduction: Tumor-induced osteomalacia is a rare paraneoplastic syndrome characterized by the presence of phosphaturic hormone-secreting mesenchymal tumors - fibroblast growth factor 23 (FGF-23), which causes hypophosphatemia and osteomalacia. These tumors are small, frequently infiltrate the surrounding tissues and are located in the connective or bone tissue. Usually, these tumors are benign, but malignant tumors have also been reported.Case report: ...

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...

Introduction: Prader–Willi (PWS) is a complex genetic syndrome characterized by dysmorphic features, hypotonia, mental retardation, behavioral abnormalities, hyperphagia with progressive obesity, and endocrine dysfunctions as hypogonadism and GH deficiency. GH treatment is recommended, the major concern being aggravation of sleep apnea.Cases report: We present 2 cases with specific clinical features and genetically confirmed PWS (del 15 q11.2–q...

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...

Thyroid dysplasia (ectopy, hypoplasia or aplasia) is a common cause of congenital hypothyroidism. Lingual thyroid is a rare embryological aberration caused by failure of migration of the thyroid gland to its normal position in the neck.This retrospective study involved 30 patients with lingual thyroid diagnosed in our Department between 1970–2005. The diagnosis was based on physical examination, evaluation of the mental development (IQ) and following tests:TSH, fT4, ultra...

Some patients with pituitary adenomas show high CSF levels and/or high CSF/serum ratio for peptidic pituitary hormones (PR), potentially due to a blood-brain barrier (BBB) damage. We evaluated albumin.CSF/serum ratio (AR) in patients with pituitary adenomas and elevated PR, as an accurate index for a BBB damage.Patients and methods: We evaluated 10 controls (21–79 years, 6M /4 F) before undergoing abdominal or peripheral surgery and 52 patients with...