ESPE Abstracts

Background: Pituitary gland duplication is a very rare developmental abnormality. It is often associated with other midline anomalies including cleft palate, spinal cord and corpus callosum defects, termed duplication of the pituitary gland-plus syndrome. Of the only 40 cases reported in the literature, most are in females and are often associated with precocious puberty. Duplication of the pituitary gland may arise from blastogenesis defects, with splitting o...

Background: Adrenal cortical carcinoma (ACC) in children is rare and aggressive, with the mainstay of treatment being surgical resection, although there have been recent improvements in outcomes with chemotherapy. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations prior to surgery, and post-operative decrease in cortisol can be chal...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. Autoimmune thyroid dysfunctions (Hashimoto's thyroiditis and Graves' Disease) are described in the literature as the most common autoimmune disease after thymic transplant.<p class="...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. These conditions may also be associated with hypoparathyroidism and patients are therefore at risk of severe hypocalcaemia. There are no published guidelines for calcium replacement in these patients during the ...

Background: Pediatric Endocrine Nurses are experts in caring for children with Endocrine conditions. Many nurses do not have the confidence, knowledge and technical skill set to produce poster presentations that allow them to share this expertise.Objective and hypotheses: This session will give Pediatric Endocrine Nurses an opportunity to hear how a poster presentation can be developed, from an idea to the final product. Nurses will feel empowered to tak...

Background: Increasing referrals for transgender youth demonstrated a lack of local interprofessional comprehensive programs for transgender youth. Pediatric endocrine clinics across Canada have collaborated with other disciplines to provide increasingly comprehensive assessment and treatment programs for transgender youth.Objective and hypotheses: Share a case study of a Canadian youth’s experience with the Gender Dysphoria Assessment and Action fo...

Background: Through nursing collaboration within the Canadian Pediatric Endocrine Nurses (CPEN) network it has become evident that there are differences in practices across the country in the suppression of puberty.Objective and hypotheses: Exploration of these differences for pubertal suppression in Central Precocious Puberty (CPP) and Transgender (TG) youth coupled with a thorough search of current literature can inform future best pra...

Objective: To provide etiology-based diagnostics to pediatric patients with diabetes in Belgium using routine clinical phenotyping and thorough genotyping.Methods: A Belgian GENEPEDIAB study consortium was created to screen, using routine diagnostic tools, for monogenic forms of diabetes in pediatric patients followed in convention centers for type 1 or type 2 diabetes, while presenting atypical biological and clinical f...

Purpose: Clinical problems caused by impaired molecular function of inborn errors of immunity (IEI) genes are not limited to the immunological system but can also affect the endocrine system. An autosomal recessive form of severe congenital neutropenia also known as Kostmann syndrome (KS) is caused by mutations in the gene encoding the mitochondrial protein HAX1. Knowing that most endocrine disorders associated with IEI are hypofunction, a close cooperation be...

Current hormone substitution therapy of patients with congenital adrenal hyperplasia (CAH) is suboptimal and cannot mimic physiological daily rhythms of hormone secretion. As supra-physiological corticoid doses are necessary to avoid adrenal androgen excess, patients show substantially increased comorbidities such as hyperglycemia, arterial hypertension, reduced growth and osteoporosis. Moreover plasma ACTH is often inadequately suppressed, resulting in undesired excess adrena...