ESPE Abstracts

Whole exome sequencing performed on a male patient with a unique complex phenotype revealed a novel de novo missense variant in FASN (c.6395C>T, p.A2132V), encoding Fatty Acid Synthase. The patient presented with panhypopituitarism (GH, TSH, LH, FSH and ACTH deficiencies), short stature, sensorineural deafness, hypoparathyroidism, retinal dystrophy, and developmental delay. He was 127 cm tall at the age of 21 and failed to respond to GH treatment [IGF-1 ge...

Background: Numerous studies from a variety of biomedical disciplines—genetic, endocrine, and neuroanatomical—have begun to shed light on the biological underpinnings of gender identity. Results of these studies support the concept that gender identity is not simply a psychosocial construct, but likely reflects a complex interplay of biological, environmental, and cultural factors.Objective and hypotheses: This review will highlight data from s...

In many parts of the world, increasing numbers of transgender/gender diverse (TGD) youth are seeking medical care to bring their physical sex characteristics into alignment with their gender identity—their inner sense of self as male, female, or somewhere on the gender spectrum. Compelling studies in the last decade have produced evidence supporting the concept that gender identity is not simply a psychosocial construct but likely reflects a complex interplay of biologica...

Thyroid cancer is the most common secondary malignancy for survivors of childhood cancer, with radiation exposure before age 18 being the most significant risk factor. Current guidelines from the Children’s Oncology Group recommend yearly physical examination to palpate for thyroid nodules. Whilst other societies recommend periodic thyroid ultrasound, further evaluation with fine needle aspirate is typically not considered for nodules less than 10mm in diameter. We descr...

Background: There is a need for a convenient and affordable alternative to daily s.c. injections for a growing incidence and prevalence of childhood- and adult-onset human GH (hGH) deficiency.Objective and Hypotheses: We sought to develop a convenient, non-invasive and affordable transdermal patch formulation capable of achieving passive delivery of large molecule drugs such as hGH and insulin for multiple days.Method: Prescription...

Background: There is a need for a convenient and affordable alternative to twice daily s.c. injections for children with IGF1 deficiency (IGFD) and growth failure. We report a novel platform technology, Topicon™ ThermoMatrix™, applied to the transdermal delivery of IGF1 (7649 Da).Objective and hypotheses: We sought to develop a convenient, non-invasive, and affordable transdermal patch formulation capable of achieving passive ...

Background: The Topicon™ patch is a needle-free novel platform technology developed to achieve truly passive transdermal delivery of insulin. Here we report pharmacodynamic (PD) and pharmacokinetic (PK) studies comparing needle injection (s.c.) vs Topicon™ mediated patch delivery of the insulin analog glargine (LANTUS®) in streptozotocin-induced hairless rats.Objective and hypotheses: We sought to develop a convenient, af...

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...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which leads to glucocorticoid deficiency. During childhood, the main aims of treatment are to prevent adrenal crisis and to achieve normal stature, optimal adult height and to undergo normal puberty. In adults, the aims of treatment are to prevent adrenal crisis, ensure normal fertility and to avoid long-term consequences of glucocorticoid use. Current treatment regimens for CAH with glucocort...

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused...