ESPE Abstracts

Background: Thyroid carcinoma is the most common endocrine malignancy and most common secondary malignancy for childhood cancer survivors. Radiation exposure has been clearly linked to risk. Thyroid nodules in children have a high risk for malignancy, whether arising spontaneously or after radiation. Reported incidence of thyroid carcinoma after radiation is 20 times the population risk, partly due to improved long-term childhood cancer survival and more active surveillance. D...

Background: The 2018 international standards of care for DMD recommend initiating testosterone for management of delayed puberty commencing at a low dose, gradually increasing to adult replacement. No recommendations exist regarding longer term use of testosterone during transition and adulthood.Aim(s): To report long-term use of testosterone in DMD with outcomes of gonadal function and pubertal development in those who ...

Thyroid nodular disease, either multinodular goitre (MNG) or solitary nodule, carries a higher malignancy risk in paediatric patients compared to adults requiring closer monitoring and investigation. We present a case series of patients with multinodular goitre who were confirmed to have tumour predisposition syndromes. Eight patients (six female) with MNG were identified using electronic medical records, based on presence of MNG and/or previous genetic testing confirming eith...

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.Methods: All existing I-DSD centre...

Background: Subjects born small for gestational age (SGA) were shown to be at higher risk for metabolic consequences in adulthood but less is known on their cardiovascular function.Objective and Hypotheses: We aimed to investigate cardiovascular function and left ventricular mass index (LVMI) in adolescents born SGA and appropriate for gestational age (AGA) and their relationship with perinatal and postnatal factors....

Background: The prevalence of MODY2 in the gestational diabetic population has been estimated to be approximately 2%. Risk of macrosomia in GCK/GDM cases depends on maternal glycemic control and fetal mutation status. However, the fetal genotype is unknown before birth. We assessed the effects of insulin therapy on the birth weight of children born to mothers with GCK mutations.Objective and hypotheses: The study included 38 patients with GDM due to GCK ...

Introduction: Neonatal diabetes mellitus (NDM) is a rare form of insulin-dependent monogenic diabetes mellitus (1/400,000 live births) diagnosed in the first six months of life. It can be either transient or permanent, with abnormalities in the parental chromosome 6q24 and with mutations in genes related to the ATP-sensitive potassium pump in the β-cell membrane respectively.Aim: We describe a male infant, 2.5 months old, diagnosed with NDM and panc...

Background: Progestins such as lynestrenol (L) can be used in female to male (FtM) adolescents with gender dysphoria (GD) who have advanced pubertal development to reduce the psychological burden of menstruation. L can later be combined with cross-sex hormones (testosterone esters) (L+T). L is much cheaper and easier to administer than GnRHa. To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To repo...

Background: Male to female (MtF) gender dysphoric adolescents with advanced pubertal development can be treated with antiandrogenic progestins such as cyproterone acetate (CA). CA is much cheaper and easier to administer than GnRHa and can later be combined with cross-sex hormones (17β-estradiol) (CA+E). To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To report the effects of consecutive CA a...

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...