ESPE Abstracts

Background: The prevalence of hyperthyroidism in pregnancy is about 0.2%, mostly due to Graves disease. Neonatal autoimmune hyperthyroidism caused by the transplacental passage of stimulatory thyrotropin receptor antibodies (TRAB) of the IgG class is a rare disorder. It occurs in only 2% of the neonates of mothers with Graves disease, is transient and associated with high morbidity and mortality rates up to 25%. Antithyroid drugs are the treatment ...

Background: Graves’ disease (GD) involves autoimmunity against TSH receptor (TSHR) bearing cells, leading to hyperthyroidism and often orbitopathy. When hyperthyroidism is treated with radioactive iodine (RAI), exacerbation of the orbital disease can occur.Objective and hypotheses: We hypothesized that RAI has immune effects affecting the balance between auto-reactive T cells and T cells with regulatory properties.Method: We m...

Background: The combination of various severe manifestations of hypothyroidism with pseudo muscular hypertrophy is called Kocher Debre Semelaigne syndrome (KDS). KDS is very rare in countries where newborn screening for hypothyroidism is in place. Most of the reports of KDS have come from India and developing countries with only a single report from Europe over last five decades. We present a 7-year-old boy from UK who had short stature and apparent partial lipodystrophy.<...

Background: Congenital hypothyroidism (CH) characterized by a deficient secretion of thyroid hormone in newborn. It is the most common endocrine disease in the children with an incidence rate about 1: 3000 live births in Saudi Arabia. Thyroid dysgenesis and dyshormonogenesis are the most common causes. Thyroid dyshormonogensis commonly inherited as autosomal recessive disorders. Although Thyroglobulin followed by TSHR mutations are the most common genetic defe...

Background: The thyroid gland is a common unintended target during and after cancer treatment in childhood cancer survivors. However, only a limited number of studies have assessed thyroid adverse events of newer or more selective anticancer drugs. The main objectives of this review are to provide an overview of thyroid disorders in children, treated with 131 I-metaiodobenzylguanidine (131 I-MIBG), tyrosine kinase inhibitors (TKIs) and immune checkpoint inhibi...

Background: Paragangliomas are rare tumours that originate from neural crest cells. Diagnosing and managing patients with paragangliomas pose several challenges.Objective: We investigated whether MECP2 defects are associated with an idiopathic CPP phenotype with or without mild neurodevelopmental abnormalities.Clinical presentation: A 14-year-old female presented with cons...

A 7 year old girl presented with breast development, mood changes and rapid growth spurt from 6.5 years. Clinically she was tall for her family and had Tanner stage 2 breast development and pubic hair. Bone age was 3 years advanced and pelvic ultrasound demonstrated globular anteverted uterus with endometrial lining and enlargement of the ovaries with follicles. LHRH test confirmed central precocious puberty with peak LH 44mIU/ml and FSH 19mIU/ml, with baseline estradiol of 92...

Introduction: Congenital hyperinsulinism (CHI) is a disorder of pancreatic beta-cells characterized by inappropriate secretion of insulin leading to hyperinsulinemic hypoglycemia. Insulin secretion is a complex, genetically regulated process. Mutations in several genes known to regulate insulin secretion result in CHI. Recently, non-coding mutations in HK1, which cause the aberrant expression of hexokinase 1 (HK1) in beta cells, have been reported as a novel c...

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder characterised by severe short stature. Replacement therapy with recombinant human IGF-1 (rhIGF-1; mecasermin [Increlex®]) is currently the only available treatment for children/adolescents with SPIGFD. We describe the methodology of the Global Increlex Patient Registry (NCT00903110), designed to monitor long-term safety and effectiveness of meca...

Background: Overweight as a predictor of adverse cardiovascular outcome is of particular interest in gender-affirming healthcare. Transgender populations are at a higher risk for obesity, possibly due to a combination of minority stress, psychiatric comorbidity, and lifestyle differences, such as reluctance to participate in group sports as a consequence of social withdrawal. However, robust auxological data in transgender adolescents is scarce.<p class="a...