ESPE Abstracts

Background: Idiopathic isolated hypoparathyroidism is rare in children. Most often aetiology is autoimmune or genetic.Objective and hypotheses: To sequence eleven genes (AIRE, CASR, GATA3, GCM2, PCLN1, PTH, TBCE, TRPM6, GNAS, PRKAR1A, PDE4D) associated with hypoparathyroidism in a child with isolated hypoparathyroidism (IHPT) in order to find a specific gene alteration in IHPT.Method: We systematically sequenced the 11 gen...

Background: In pediatric patients multiple pituitary hormone deficiency (MPHD) can be caused by mutations in pituitary-specific transcription factors. Among those, mutations in PROP1 gene account for ~50% of genetically determined cases of CPHD. Regarding morphology, the anterior pituitary can be normal, hypo-/aplastic or enlarged.Results: We present two unrelated patients referred for evaluation of growth retardation. Both had profound growth retardatio...

Background: Testicular adrenal cell rest tumours (TART) are common in adult males treated for congenital adrenal hyperplasia (CAH) and contribute to reduced fertility. Their prevalence varies between 6-50%, and the incidence raises during adolescence.Aim: To explore the appearance of TART in a group of 25 male children in the age group 3-18 years who were treated for CAH.Methods: Compliance to the treatment was assessed through 17O...

Objective: Clustering of rare diseases and private founder mutations is a common phenomenon in many founder populations such as Romani. Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to estimate the prevalence of 21-OHD and the frequency of particular CYP21A2 gene mutations in the Croatian Romani population. Methods. Data f...

Introduction: Oncocytomas are rare epithelial tumors that can be found in various tissues such as kidney, salivary and endocrine glands. Adrenocortical oncocytomas (AON) are very rare tumors with around 160 patients described in the literature. Generally they are regarded as benign and mostly hormonally nonfunctional. When hormonally active, these tumors produce adrenal steroids resulting in various clinical presentations such as virilization, feminization, an...

Background: Testicular adrenal rest tumours (TART) are common cause of infertility in males with congenital adrenal hyperplasia (CAH).Objective and hypotheses: Aim was to assess TART frequency and their impact on gonadal function in 46 children, adolescents and adult male patients with 21-hydroxylase deficiency (21-OHD) (24 salt wasting (SW), 14 simple vilirilizing, eight nonclassical) and four with 11-hydroxylase deficiency (11-OHD).<p class="abstex...

Background: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein ALADIN. Osteoporosis seems to be an overlooked symptom in triple A syndrome.Objective and hypotheses: To evaluate etiology of osteoporosis in six male and four female patients with triple A syndrome.Method: X-ray, dual X-absorptiometry (DXA) of the lum...

Background: Growth response in growth hormone deficient children during growth hormone (GH) replacement therapy rarely fulfil our projections and patient’s expectations. We here report 3 cases with outstanding growth response.Case reports: First patient was diagnosed as gluten enteropathy in early childhood, but the diet did not improve his growth. At age of 7 years the diagnosis of isolated growth hormone deficiency (GHD) was established and GH sub...

Background: The Xp21 contiguous gen deletion syndrome is a rare disorder which is characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and Duchenne muscular dystrophy. It is caused by partial deletion of Xp 21. On Xp21 several genes are located contiguously, such as NR0B1/DAX1, dystrofin gen and gene for glycerol kinase, and the clinical features depend on the size of the deletion. The major clinical manif...

Background: Nonclassical congenital adrenal hyperplasia (NCCAH) due to mild 21-hydroxylase deficiency is caused by mutations of the CYP21A2 gene located on chromosome 6p21.3.Objective and hypotheses: To determine cut-off for basal and stimulated 17-hydroxyprogesterone (17-OHP) levels, to evaluate CYP21A2 gene mutations frequency among Croatian NCCAH patients, to determine correlation between 17-OHP levels and genotype and to evaluate co...