ESPE Abstracts

Background: In-vivo skeletal MRI imaging remains challenging due to the extremely short MR relaxation times (<1 ms) of protons bound to water in bone. However, each MRI sequence contains properties identifiable through feature-based recognition, highlighting characteristics relating to skeletal configuration. We thus present a novel statistical method for clinical 1.5 Tesla (T) MRI in quantifying trabecular microstructure and use HRpQCT to determine its accuracy.<...

Background: Over the last decade, and in light of the COVID-19 pandemic, there has been a substantial increase in the use of digital health tools to track growth and manage growth disorders in children. Paediatric endocrinologists acknowledge the usefulness of these tools in clinical decision making but lack confidence and skills to use them. Atique et al. designed a Massive Open Online Learning Course (MOOC) to increase digital health literacy, and identified...

Introduction: Rapid-acting insulin analogues have been developed to mimic more closely the physiological action of endogenous insulin. However, they still have a delayed onset of action and a longer duration compares to endogenous insulin. Therefore, newer insulin analogues have been developed with a faster onset and a shorter duration of action.Aim: To evaluate the efficacy of rapid-acting insulin analogues (Novorapid) ...

Background: In an effort to better understand the molecular basis of obesity, studies focus on genetic loci mapping to the leptin–melanocortin pathway, one of the key mechanisms for controlling food intake and body weight. Adenylate cyclase 3 (ADCY3) is a key genetic candidate as it seems to have an essential role at primary neuronal cilia in regulating body weight. We have previously reported the novel probably pathogenic ADCY3</em...

Normocalcemic primary hyperparathyroidism (NPHPT) has been recognized as a variant of primary hyperparathyroidism (PHPT) and it is characterized by elevated PTH with persistently normal concentrations of albumin-adjusted total and ionized calcium. It is related to increased risk in development of osteopenia/osteoporosis as well of parathyroid adenoma and hypercalcemia/hypercalciuria. In order to identify biochemical disorders of PTH in normocalcemic children we performed in al...

Patients: A 2-year old girl was referred due to glucosuria 1874 mg/dl. Fasting blood sugar was 71 mg/dl and HbA1c 4.8%. Examination of her growth charts revealed mild failure to thrive, since 15 months of age, as far as weight gain and height velocity. We used Flash technology (FreeStyle Libre) to identify hypoglycemic episodes. In 9 days, 8% of the time was < 70 mg/dl, with 11 hypoglycemic events: mean duration 94 min, lowest 52 mg/dl.<p class...

Background: Hormonal replacement in boys with congenital Hypogonadotrophic Hypogonadism (HH) as well as hormonal repair of bilateral cryptorchidism and micropenis remain a challenge in pediatric endocrinology.Methods: In the «REMAP» study ISRCTN13007297 eight neonates and infants, all with bilateral cryptorchidism in intra-abdominal position and micropenis (≤2 cm), with absence of neonatal male-mini puberty were treated for 3 months with ...

Background: Third generation aromatase inhibitors (AI) have never been used as monotherapy to increase predicted adult height (PAH) in girls. Our previously published GAIL study (J Endocrinol Invest. 2016 Apr;39(4):439–46) has shown that the combination of anastrozole to an LHRH analogue for 24 months is safe and effective in ameliorating PAH in girls with early puberty +1.21 SDS (+7.51 cm) compared to inhibition of puberty alone +0.31 SDS (+1.92 cm), P=...

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

Atopic dermatitis (AD) is a chronic inflammatory disease affecting children and adolescence. The traditional therapeutic options for AD, including emollients topically and immune modulatory agents systemically focusing on reducing skin inflammation and restoring the function of the epidermal barrier, are proven ineffective in many cases. Several studies have linked vitamin D supplementation with either a decreased risk to develop AD or a clinical improvement of the symptoms of...