ESPE Abstracts

Background: Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth and other clinical features. Overgrowth may be apparent at birth and can be static or progressive. Some syndromes are associated with increased tumor risk.Objective and hypotheses: A 6-year-old girl with accelerated growth rate was referred. She was born at term and was 55 cm long at birth (+2.4 SD). At 6 years, she was 134.4 cm tall (+3.7 SD) with ...

In children with X-linked hypophosphatemia (XLH), excess circulating fibroblast growth factor 23 (FGF23) causes hypophosphatemia with consequent rickets, skeletal deformities, and impairments in growth and mobility. Compared to continuation with conventional therapy (oral phosphate and active vitamin D [Pi/D]), switching to treatment with burosumab, a fully human monoclonal antibody against FGF23, showed significantly greater improvement in phosphate homeostasis, rickets sever...

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...

Aims: Historical I-CAH data shows considerable variation in the management of 21-hydroxylase deficiency (21-OHD) congenital adrenal hyperplasia (CAH) in infancy despite existence of several guidelines. Using the I-CAH registry we analysed contemporary early infancy natural history data, creating benchmarks as part of continuous quality improvement.Methods: Of 136 infants born in 2018-2023 and treated for 21-OHD CAH withi...

Background: Carbimazole is widely used in the treatment of Graves’ disease and is well tolerated but can produce adverse effects in 5% of cases. Urticaria, which can develop as a drug reaction to carbimazole responds to withdrawal of the drug and symptomatic management. Urticaria is also a rare manifestation of thyrotoxicosis and does not respond to treatment, but regresses rapidly with the control of underlying hyperthyroidism.Objective and hypothe...

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

Background: Several studies in adults have provided evidence for opioid-induced hypofunction of the hypothalamo-pituitary–adrenal and GH–IGF1 axis after chronic (oral and intrathecal) administration. This so-called opioid endocrinopathy has not been reported in children.Objective and hypotheses: We report the occurrence of delayed growth with low serum IGF1 levels and recurrent hypoglycemia due to central hypocorticism in a toddler after a pres...

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

Context: For transgender women undergoing gender-affirming hormone therapy (HT), breast development is an important treatment outcome. Since earlier studies showed small breast volumes in trans women treated with HT, we hypothesized that testosterone exposure during puberty might negatively influence breast development and that early initiation of puberty suppression (PS) might have a positive effect on breast development.Aim:</s...

Background: Cis-gender females are known to mount stronger immune responses to invading pathogens or vaccines than cis-gender males. However, this is also associated with increased risk of autoimmunity. Little is known about the immunophenotypes of transgender individuals on gender-affirming hormonal treatment, despite growing evidence that hormones influence the immune system. Via the process of class-switch recombination (CSR), B-cell immunoglobulin isotype ...