ESPE Abstracts

Background: The primary goal of treatment is to achieve a final height within the normal range and avoid the physical and psychological consequences of short stature (SS). If after a time, treatment efficacy criteria are not achieved, it is necessary to revalue its usefulness. There is no consensus about which conduct should be adopted in these cases. An alternative, is the suspension of rhGH treatment and evaluate the clinical and biochemical results to decide to continue or ...

Introduction: It is thought that sex hormone binding protein (SHBG) is involved in glucose homeostasis in addition to regulate the levels of sex hormones. Clinical studies associate reduced SHBG concentrations with insulin resistance (IR).Objective: To evaluate the relationship of SHBG with IR and hyperandrogenism markers in a group of adolescents affected with polycystic ovarian syndrome (PCOS), and how weight could affect these markers.<p class="ab...

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

Background: Cis-gender females are known to mount stronger immune responses to invading pathogens or vaccines than cis-gender males. However, this is also associated with increased risk of autoimmunity. Little is known about the immunophenotypes of transgender individuals on gender-affirming hormonal treatment, despite growing evidence that hormones influence the immune system. Via the process of class-switch recombination (CSR), B-cell immunoglobulin isotype ...

Background: There is limited reporting of the impact of genital difference on early childhood experience, although the young person’s viewpoint should be at the core of patient centred clinical decision making. The experience of girls living with Congenital Adrenal Hyperplasia (CAH) may differ according to context, being influenced by interactions within the family, with specialist teams as well as prevailing social values. Clearly there is a need to inv...

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...

Background: The internet provides a multitude of health information. Understanding disorders/differences of sex development (DSD) can be difficult for families partly due to their complexity and relatively low prevalence. Consequently, families may use the internet to gain understanding of their child's condition, however the quality of this information has not been formally assessed.Aims: To assess the quality, vali...

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

Background: Neonatal cortisol assessment is indicated in suspected adrenal insufficiency. Clinical presentation includes: low blood glucose, low blood pressure, ambiguous genitalia, electrolyte abnormalities, midline abnormalities.Aims: Review the trends, outcomes and associations of cortisol assessment in neonates within our Trust between 2012-2018.Objectives: Review:<p class=...

Controversy continues regarding surgery in infancy to address atypical genitalia in girls with CAH and other Disorders of Sex Development. There is no consensus to surgical approach. Interest in outcomes of the range of surgical and non-surgical interventions for genital diversity is growing. It is widely acknowledged that the multi-professional management to promote long term psychosocial adaptation of the child based partly on confident parenting is essential. We conducted a...