ESPE Abstracts

Background: Most organs including bone are affected in type 2 Diabetes (T1D) mechanisms. The exact mechanism of bone derangement is still unknown.Aim of work: i) Assessment of Pyridinoline crosslinks as a bone resorption marker and alkaline phosphatase as a bone formation marker in T1D in children & adolescents. ii) To determine the effect of glycemic control and disease duration on bone turnover.Subjects and methods: 39 T1D pa...

Pseudohypoparathyroidism (PHP) is a disorder caused by PTH resistance due to a genetic defect in imprinted GNAS cluster. It is characterized by high phosphorus, low to normal calcium and elevated PTH. It is classified into types 1a, 1b, 1c, pseudopseudohypoparathyroidism and type 2. Type 1a is often associated with Albright Hereditary Osteodystrophy (AHO) which is characterized by short stature, round facies, obesity, brachydactyly, ectopic calcifications and developmental del...

Background: Congenital adrenal hyperplasia (CAH) is one of the most common inherited endocrinal disorders. Steroid 11β hydroxylase deficiency (11βOHD) is the 2nd most common form of CAH. It is a rare AR disorder caused by CYP11B1 mutations with an incidence of 100 000–200 000 in overall population.Objective and hypotheses: To detect 11β hydroxylase deficiency in patients presenting with clinical manifestations and hormonal findings su...

Prader-Willi syndrome (PWS) is a complex genetic disorder which affects endocrine and neurological systems, metabolism and behaviour. In the neonatal period PWS is characterised by hypotonia, and resultant failure to thrive, whilst in childhood hyperphagia and obesity typically predominate. Patients can develop hypothalamic dysfunction and a range of endocrinopathies, including growth hormone deficiency, hypogonadism and hypothyroidism. Patients with PWS benefit from early and...

A 13 months old infant, presented with failure to thrive, untreated congenital hypothyroidism and pseudo-hypertrophy of limb muscles (i.e. Kocher-Debre-Semelaigne syndrome). The child had delayed motor and mental development. Thyroxin replacement therapy, as well as nutritional support, was initiated.Two to three weeks after treatment introduction, the motor and cognitive developments were accelerated with striking improvement as if global growth was sto...

Background: Osteogenesis imperfecta (OI) is a genetic disorder mostly associated with mutation in one of the two genes encoding a chains of collagen type 1 (COL1A1 and COL1A2). Severity of the symptoms varies widely, caused by increase bone fragility and low bone mass. However, there is no direct relation reported in osteogenesis imperfecta and panhypopituitarism.Clinical case: Nineteen months old boy was clinically diagnosed with osteogenesis i...

Disorders of sex development (DSD) have defined as congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Wilms tumor 1(WT1) gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms tumor, nephropathy, gonadoblastoma and other defects e.g. cryptorchidism, hypospadias. Sex chromosome mosaicism is a major cause of DSD with a wide phenotypic variability. The p...

Background: The prevalence of type 2 diabetes (T2D) is significantly increased in pediatric population, which is affected by obesity worldwide. The progression of insulin resistance to T2D in obese children has been shown to be faster than in adults. Therefore, screening for T2D seems meaningful especially in high risk groups such as children and adolescents with obesity, family history of T2D, and those with clinical features of insulin resistance (hypertension, dyslipidemia,...

Background: Many epidemiological studies have found high prevalence of vitamin D deficiency in children with type 1-diabetes mellitus (T1D). 1,25(OH)2D is a potent immune-modulator that also enhances the production and secretion of several hormones, including insulin. The association of low serum 1,25(OH)2D levels with high glucose level and diminished insulin sensitivity suggests that vitamin D may modulate insulin metabolism.Aim and objectives: To scre...

Background: Patients with isolated growth hormone deficiency (GHD) will routinely have an MRI scan of the pituitary and brain to assess pituitary size and presence of any intracranial lesions. The result may change the threshold for monitoring for further hormone deficiencies. However the test may also detect unexpected or unrelated abnormalitiesAim: To review the incidence of normal and abnormal MRI scans in children with a diagnosis of isolated GHD.</p...