ESPE Abstracts

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

Background: 46XY DSD with female phenotype is classified as complete gonadal dysgenesis (46XY CGD) if a uterus is present or a disorder of androgen synthesis or action if a uterus is absent. The genetic causes of 46XY CGD are not fully clarified. Less than 15% of the cases were found to carry mutations of the sex determining region Y gene (SRY).Purpose: The description of the rare case of two sisters affected of 46XY CPD and gonadoblastoma with SRY mutat...

Background: 46,XY Complete Gonadal Dysgenesis (Swyer Syndrome) is a rare cause for DSD with incidence ≈1:80000. It is characterised by defective formation of the gonads as a result of structural anomalies in the sex chromosomes or mutations in specific genes. In 20% of the patients deletion/mutation in SRY can be found. Mutations, deletions or duplications in other genes (NRD5A1, DHH, DAX1, WNT4, DMRT, etc.) are also reported. The phenotype is completely female and the d...

Background: Aromatase inhibitors (AI) are being used in clinical trials in children related to peripheral precocious puberty, and idiopathic short stature to improve height prognosis.Case report: A 2 11/12 year-old boy was referred to our center for evaluation of penile enlargement and pubic hair development. Physical examination revealed a well-developed muscular boy with a body weight of 22 kg (>97p), height of 110.1 cm (>97p), with ...

Introduction: Turner syndrome (TS) is characterized by short stature and premature ovarian failure. Genetic component of TS patients with diagnosis of inflammatory bowel disease has not been largely studied.Case Report: A 94/12-year-old girl with history of Crohn’s disease was evaluated for short stature. Her disease was well controlled with medications, however she continued with linear growth failure. Medical history included...

Glial cells are the most abundant cell type in the CNS. Although they were originally thought to only play a supportive role for neurons, it is now clear that glial cells are involved in all aspects of brain function. Understanding how glia, and in particular astrocytes, tanycytes and microglia, participate in the neuroendocrine control of metabolic homeostasis has come to the forefront in recent years. This is largely due to the observation that high fat diet-induced hypothal...

Background: The broad spectrum of associated diseases underlying the diverse phenotypes of patients with Turner syndrome (TS) has been extensively described. However, the underlying pathophysiological mechanisms remain unknown. Few studies have analyzed congenital and acquired diseases as a function of karyotype, and conflicting results have been obtained, calling into question the role of haploinsufficiency for genes located on the X chromosome.Objectiv...

Background: Ovotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissues in the same individual. SRY is present in approximately 1/3 of patients with 46, XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood.Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5...

Background: Body composition measures differ between DEXA scanners. If an old DEXA is replaced a transition period for double measurements on the old and the new scanner is needed.Objective and hypotheses: To evaluate differences between the old (Hologic QDR 2000) and new (Hologic Discovery Wi) scanner and to calculate formula transforming measurements.Method: 51 double measurements were performed on a group of 41 children and adul...

Background: Individuals with a mixed 46,XX and XY karyotype, categorized as ovotesticular disorder of sexual development (ODSD), have gonads with either an ovary in one side and a testis in the other side or an ovotestis.Objective and hypotheses: This study aimed to investigate the relationship between sex chromosomes and testicular and ovarian cell types in gonadal tissues associated with ODSD patients with 46,XX/46,XY.Method: Gon...