ESPE Abstracts

Background: There is increasing recognition that the in utero environment might influence obesity risk.Objective and Hypotheses: We explored the hypothesis that smoking and alcohol consumption in pregnancy are associated with offspring body composition using the Southampton Women’s Survey mother-offspring birth cohort study.Method: At 34 weeks’ gestation, maternal smoking and any alcohol intake in the preceding 1...

Metreleptin is a leptin analog used to treat metabolic complications of lipodystrophy, a set of rare disorders characterized by generalized (GL) or regional (PL) deficiency of adipose tissue, resulting in insulin resistance, diabetes, dyslipidemia, steatohepatitis, and reproductive dysfunction. Metreleptin increases fertility, particularly in GL; spontaneous pregnancy without metreleptin was reported in only 4 patients with GL. Risks of metreleptin suggested by rodent studies ...

Real-world studies reporting the impact of continuous glucose monitoring (CGM) in children with Type 1 diabetes (T1D) are limited. In April 2017 CGM became fully subsidised in Australia for children with T1D <21yrs. We report the impact of this in a large population based sample of paediatric diabetes (n=1093). Almost all (99%) children (age < 18yr) with diabetes in Western Australia attend a single paediatric diabetes centre.Pri...

Background: The positive effect of GH therapy in small for gestational age (SGA) singletons has been shown in previous studies. Little is known about twin growth and GH treatment where only one twin is born SGA.Objective and hypotheses: We present data from two set of twins where one was appropriate for gestational age (control) and the other twin was SGA (treatment).Method: Twin pair 1: male monochorionic diamniotic (MCDA) twins b...

Background: The process of sexual differentiation is central for reproduction of almost all metazoan. Recently, we identified CBX2.1 a chromatin architecture regulator, as an essential transactivator for human male gonadal development. CBX2 has a second isoform CBX2.2. Since nothing is known about the role of CBX2.2 in human sex development, we took advantage of the p.C132R mutation in CBX2.2 in a 46,XY disorder of sex development (DSD) patient with complete female phenotype a...

Background: Antithyroid drugs such as carbimazole form the mainstay of medical management of hyperthyroidism in children. Parents are always warned about agranulocytosis, which is a rare side effect of these drugs. Development of arthralgia after starting antithyroid medication can be a disabling side effect and needs to be distinguished from the more serious antineutrophil cytoplasmic antibody (ANCA) positive vasculitis.Objective and hypotheses: Here we...

Background: Hypothyroidism is a well-known treatable cause of global developmental delay in developing children. In recent years contrast imaging studies are much more commonly employed as diagnostic means in the treatment of various pediatric conditions. In 2022, the FDA issued a warning recommending thyroid function monitoring in babies and young children who receive injections of iodine-containing contrast media(ICM) for medical imaging. They recommend the ...

Background: The WDR11 gene was recently involved in the pathogenesis of isolated hypogonadotropic hypogonadism (IHH). In 2010, Kim et al. (1) identified five different heterozygous missense WDR11 rare variants in six of 201 IHH patients (five normosmic IHH and one Kallmann syndrome), which were absent in more than 400 controls. Animal studies demonstrated that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfacto...

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

Background & Aims: Hypoglycaemia is a constant threat for all patients with congenital hyperinsulinism (CHI) and, left untreated, can lead to neurological damage and impaired development. To improve glycaemic monitoring, self-monitoring-blood-glucose (SMBG) is increasingly being replaced by Continuous Glucose Monitoring (CGM) with potential to identify illness patterns and treatment responses although with unproven benefit for patients and families. Explor...