ESPE Abstracts

Background: Insulin deficiency inhibits protein synthesis and stimulates protein degradation, and then amino acids metabolism could be altered in diabetes mellitus.Objective: The aim of this study is to analyze amino acid plasma profile in a group of children with type 1 diabetes, and to evaluate its potential application as markers of metabolic control of the disease.Subjects/Methods: A clinical assessment and metabolic study (ami...

Background: Functional studies on uncoupling protein 1 (UCP1) are important to identify potential pharmacological targets which interfere with energy metabolism. However, current cell models of human origin are scarce due to limited tissue availability. In this study, we generated human preadipocytes and adipocytes with an overexpression of UCP1 and studied the metabolic function of these cells.Methods: Human Simpson-Golabi-Behmel syndrome (SGBS) cells w...

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of precocious puberty (PP), café au lait spots, and fibrous dysplasia (FD). There are only a few patients with MAS in Korean because of the rarity of this disease. We reported the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. It is a retrospective cohort study of patients’ clinical data including about peripheral PP, FD. Also, treatment experie...

Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.</...

Background: The side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associate with primary adrenal insufficiency (PAI) and, in 46,XY patients, Disorders of Sex Development (DSD). A total of 35 patients (27 families) are reported including 15 intermediate forms with delayed onset of PAI, variable degrees of DSD or normal male phenotype.<p class="abstext"...

Background: Testicular adrenal rest tumours (TARTs) are benign tumors consisting of cells with adrenal-like features in mediastinum of testes. TARTs occur in up to 94% of adult male patients with classic 21-hydroxylase deficiency and also have been described in patients with Cushing syndrome and acquired adrenal insufficiency. Poor disease control is thought to be one of the main predictive factors for TARTs development.Clinical case: A boy presented at ...

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause for persisting hypoglycaemia in infancy. Genetic causes are mutations in ABCC8 or KCNJ11 (coding for K+ATP-channel subunits), less frequently mutations in GCK or GLUD1. Further genetic examinations are usually performed only if phenotypic aspects point to other specific genes, such as the rare short chain 3-hydroxylacyl-CoA dehydrogenase (<...

Background: To explore the reason of children on the 46,XY DSD.Objective and hypotheses: To analyze the clinical characteristics, diagnosis and management of a case with steroid 5α-reductase type 2 deficiency (SRD5A2) and perform related gene mutation analysis with a view to raising awareness of this disease.Method: A 2 year old 5 months child came with abnomal vulval shape. Karyotype was analyzed by chromosome cultivation. Gn...

Background: Telomere length at birth is a major determinant of telomere length in late adulthood. However, the prenatal setting of telomere length is poorly understood. Individuals born large from non-diabetic mothers are at lower risk for later-life disorders than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and that is already present in infancy.Objective, hypotheses & methods: ...

Background: β-thalassemia is the most common single gene disorder worldwide, in which hemoglobin β-chain production is decreased. Today, the life expectancy of thalassemic patients is increased because of a variety of treatment methods. However, osteoporosis and cardiac dysfunction remain frequent complications.Objective and hypotheses: The aim of the study, was to analyze the diagnostic and prognostic role of ferritin for endocrinopathies and ...