ESPE Abstracts

Introduction: Autoimmune polyendocrine syndrome type I (APS-1) also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic autosomal recessive disease known by the triad of the major components hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidosis. However, many minor diseases could be present such as other endocrine manifestations (gonadal insufficiency, DM type 1, thyroid dis...

Background: For many patients with high-risk cancers, allogeneic stem cell transplant (SCT) is the only curative option. A major risk of SCT is acute graft versus host disease (aGVHD). About 50% of SCT patients develop aGVHD as a part of their course. Glucocorticoids are the mainstay of therapy in aGVHD patients. Of the patients that develop aGVHD, about 50% develop a steroid refractory/resistant form. These patients tend to require higher doses of steroids and many will requi...

Background: In non-Caucasian youth residing in low-income settings, risk of mortality and rates of diabetes complications are substantially higher and clinical phenotypes may be distinct.Objectives: To assess the clinical presentation, glycemic control, and chronic complications of diabetes in Haitian youth residing in Haiti.Methods: Retrospective review between 01/2013–03/2018 of youth 0-25 years with diabetes followed at a c...

Background: Educating patients and families on the management of Type 1 Diabetes Mellitus (DM) has always been a challenge. Some endocrinologists educate patients and families with new onset Type 1 DM in the inpatient setting, while others have tried to do this process as an outpatient given the changes in the limits of inpatient coverage. Given the challenges in the education process, we must find new and innovative ways to educate patients and families efficiently in order t...

Background: Abnormalities of cervical spine have been described in association with pituitary anomalies in the context of malformative syndromes with midline defects. Several genes are involved in the control of pituitary gland development, differentiation and function. In particular, the presence of os odontoideum has been reported in one case of pituitary hypoplasia, associated with leg anomalies, renal dysplasia and no aberrations of the BMP4, BMP2 and PTX1 genes. In anothe...

Background: Graft versus host disease (GVHD) is a complex disease resulting from donor T-cell recognition of a genetic disparate recipient, which is unable to reject donor cells after allogeneic transplant. Glucocorticoids (steroids) are the mainstay of acute GVHD therapy. Glucocorticoid resistance has been characterized in several inflammatory conditions including asthma, rheumatoid arthritis, systemic lupus, erythematosus, ulcerative colitis, and Crohn’s disease. Glucoc...

Background: Prader–Willi syndrome (PWS) is characterized by a switch in early childhood from failure to thrive to excessive weight gain and hyperphagia with impaired satiety. The underlying mechanism for this switch may involve hyperghrelinemia, but only poor data exists regarding levels of acylated ghrelin (AG), unacylated ghrelin (UAG), and the AG/UAG ratio in PWS.Objective and hypotheses: To investigate plasma levels of AG and UAG in PWS, compare...

Background: Encephalopathy associated with autoimmune thyroid disease (EAATD) is very rare in pediatrics. Contributing factors include: Sudden change is thyroid levels, cerebral vasculitis,endothelial inflammation or immune complex deposition, global cerebral hypoperfusion, as well as cerebral tissue-specific autoimmunity.The case: A 16-year-old female was diagnosed with hyperthyroidism and treated with Radio Iodine Ablation (RIA). Her total T4 level was...

Background: The phenotype of SHOX aploinsufficiency is highly variable also in affected members of the same family with broad differences in severity of short stature, disproportion, presence of Madelung deformity.Case presentation: We present a family with a new mutation of SHOX gene. A 2.3 years old girl, born at term from unrelated parents, came to our observation for short stature. Her height was −2.02 SDS, arm span was normal, sitting heigh/he...

Background: The management of subclinical hypothyroidism (SH) is still challenging in particular for mild forms with TSH levels ranging between 4.5 and 10 mU/L.Objective and hypotheses: to compare left ventricular (LV) geometry and function of SH subjects and matched euthyroid controls, and to evaluate the effect of L-thyroxine (L-T4) therapy on cardiac parameters.Method: Thirty-six (36) children (19 females and 17 males), aged 8.6...