ESPE Abstracts

Background: Steroid 5-α reductase type 2 (SRD5A2) deficiency is an rare inherited disorder resulting from mutations in the SRD5A2 gene, causing 46,XY DSD (Disorder of Sex Development). The mutated SRD5A2 enzyme can no longer convert testosterone to dihydrotestosterone, which is needed for virilisation of external genitalia.Objective and hypotheses: To describe the phenotype, investigations and management of SRD5A2 deficiency.<p class="a...

Background: Recent data describe that the gonads of patients with partial gonadal dysgenesis (PGD) and mutation in the NR5A1 gene can present with a different histological pattern.Objective and hypotheses: To evaluate histological aspects of PGD caused by NR5A1 mutations.Method: Five patients with PGD, a history of gonadal biopsy or gonadectomy and confirmed mutation on NR5A1 gene were selected from a Bra...

Background: Self-monitoring of blood glucose is an essential tool in the optimal management of childhood and adolescent diabetes. In the last 15 years, an extraordinary development of reliable devices for real-time continuous glucose monitoring (CGM) has taken place. Meanwhile, several trials in adults and children showed that CGM can be associated with improved glycaemic control, significant reduction of hypoglycaemia and better quality of life, particularly in those patients...

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: Diabetic autonomic neuropathy (DAN) is predictive for subsequent mortality mainly due to terminal renal insufficiency. DAN is screened by cardiac tests based on heart rate variability (HRV).Aim: To assess cardiac autonomic neuropathy (CAN) and its predictive value for survival in children with Mauriac syndrome.Material and methods: The study included 12 patients with Mauriac syndrome (growth retardation, hepatomegaly an...

Background: Sex Cord Tumour with Annular tubules (SCTAT) is a rare ovarian benign tumour accounted approximately for 5% of ovarian tumour. SCTAT is an oestrogen producing ovarian tumour and can cause precocious puberty. For SCTAT, oophorectomy is recommended as the first-line therapy. Since SCTAT has a high rate of recurrence, it is clinically important to find a monitor method that can detect cancer recurrence in an early stage. In the previous reports, E2 and anti-mullerian ...

Background: The diabetic ketoacidosis (DKA) represents one of the most frequent causes of death in childhood. The first therapeutic step is a quick rehydration, whereby a venous access must be ensured in every child with DKA, in order to infuse liquids immediately. The children conditions (state of shock, obesity) can make access extremely difficult. We present two cases of patients with severe DKA, where finding a venous access was almost impossible.Cli...

Background: Cystic fibrosis-related diabetes (CFRD) and glucose abnormalities have a negative impact on pulmonary function and survival in cystic fibrosis (CF) patients. Oral glucose tolerance test (OGGT) is the screening test of choice for CFRD, although undetected high glucose levels can be missed with this test. The use of a continuous intersticial fluid glucose monitoring system (CGM) can be useful in these patients.Objective and hypotheses: To deter...

Background: Obesity is one of the factors of musculo-skeletal disorder by its weight stress. It can change body shape and axis of weight balance, especially in growth, which can affect skeletal curvature.Objective and hypotheses: The objective of this study was to determine the prevalence of spinal abnomalies in elementary school entry children and evaluate some cofactors related to obesity in child.Method: In a cross-sectional stu...

Background: Achieving proper glycemic control is the major goal in the management of type 1 diabetes. The Diabetes Control and Complication Trial showed that optimal glycemic control can decrease micro- and macrovascular complications in adolescents and adults with type 1 diabetes. Both hypo and hyperglycemia affect crucial regions in the developing brain. In children and young adolescents, most of the work towards achieving optimal glycemic control is led by ...