ESPE Abstracts

Background: X-linked AHC is a rare disorder of the adrenal cortex caused by mutations in the NR0B1 (DAX1) gene. NR0B1 (DAX1) encodes for an orphan nuclear hormone receptor which is expressed in the adrenal, gonad, hypothalamus, and pituitary glands. Hypogonadotropic hypogonadism (HH) is the most frequently observed puberty disorder (absent or delayed puberty) caused by mutations in the NR0B1 (DAX1) gene and is due to impaired gonadotropin synthesis a...

Background and objective: Given phenotype variability as well as limited utility of conventional endocrine investigations in reaching the diagnosis in a 46,XY patient suspected of a disorder of sex development (DSD), there is an increasingly stronger argument for considering targeted genetic sequencing at an earlier stage of the evaluation process. This study focused on identifying the relationship between clinical examination, endocrine and radiological assessment, as well as...

Background: In the optimal care of children with DSD, it is considered good practice to work within a multidisciplinary team (MDT) and engage in opportunities for professional development.Method: To explore the current models of MDT practice and the extent of professional development in specialist DSD centres, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.<p class="...

Background: The approach to investigating a newborn with a suspected DSD is likely to vary between centres and may be influenced by local availability.Method: To explore the current diagnostic practice and needs, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.Results: A total of 77/124 (62%) clinicians, in 74 centres, from 38/42 (91%) countries res...