ESPE Abstracts

Background: Congenital multiple pituitary hormone deficiency (MPHD) arises from defects in pituitary development and is sometimes associated with craniofacial abnormalities. Mutations in the transcription factor PROP1 are the most common known genetic cause of the disorder. In this case the course of disease is progressive, and can lead to life threatening adrenal insufficiency.Objective and hypotheses: Our objective is to understand the role of PROP1 in...

Background: As well as acting on longitudinal growth, growth hormone (GH) also has a number of metabolic effects, and is involved in the regulation, functioning and development of the immune system.Aims: To evaluate the immune profile in GH-deficient children after 6 months’ GH treatment.Method: A total of 44 children were examined before and after a six-month course of treatment with rhGH (0.03 mg/Kg per day). Levels of IGF1 ...

Background: Chronic diseases are the main causes of bone mass reduction in childhood and adolescence. Different aspects related to the process of bone acquisition and maintenance may be affected. Studies had point out the presence of bone mass reduction in children and adolescents with HIV infection with association to antiretroviral use, chronological age (CA), weight and serum CD4 T-cell counts. However, others do not.Objective: To evaluate bone minera...

Background: Significant changes in metabolism and water equilibrium are registered during pregnancy. However, very limited previous investigations have been carried out on variations of exposure levels and metabolism of non-persistent environmental chemicals during pregnancy.Objective and hypotheses: The objective of this longitudinal study is to describe variation in exposure of pregnant women to environmental chemicals. We hypothesise that variation in...

Background: The molecular genetics of isolated hypogonadotropic hypogonadism (IHH) has been a subject of interest and recent discoveries. Multiple genetic variants with x-linked and autosomal inheritance are involved in the regulation of the hypothalamic pituitary gonadal axis.Objective and hypotheses: We undertook an extensive genetic evaluation to elucidate a possible genetic aetiology in two brothers with clinical and biochemical evidence of IHH. We h...

Background: Testicular adrenal rest tumor (TART) is one of the main causes of decreased fertility in men with congenital adrenal hyperplasia (CAH). TART may occurs in childhood but there is no currently identified factors influencing the development of this condition.Objective and hypotheses: To study the role of glucocorticoid and mineralocorticoid undertreatment in the TART development in children and adolescents with CAH, 21-hydroxylase deficiency.</p...

Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone...

Background: Genes in the HLA region confer about 50% of the genetic risk of type 1 diabetes (T1DM). More than 40 different genes give a minor contribution to T1DM risk, some of them are related to the immune function.Case presentation: A girl was referred at the age of 9 months with severe ketoacidosis in T1DM at onset. Anti-insulin autoantibodies were positive. She was the only daughter of unrelated Caucasian parents, born at term by vaginal delivery. T...

Background: The pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of clinical entities caused by a defect in the peripheral action of parathyroid hormone (PTH). Biochemically it manifests itself with hypocalcemia, hyperphosphatemia and elevated PTH. PHP-Ia is the most frequent and multiple hormone resistance, associated signs of Albright hereditary osteodisfrofia (OHA) and mutations in the gene encoding GNAS Gsa protein.Case presentation: ...

Background: The Fanconi syndrome (FS) and GH deficiency (GHD) is a rare association. The FS is a dysfunction in the proximal tubule that can be idiopathic or primary. This dysfunction leads to renal loss of bicarbonate, phosphate, glucose, potassium and amino acids. One of the clinical feature is a delay in body growth. The correction of acidosis can protect the loss of growth. According to the prevalence of idiopathic GHD, it would be expected that 1 in 4 000 patients and, wi...