ESPE Abstracts

Background: Long-term use of glucocorticoid for management of Duchenne muscular dystrophy (DMD) has been standard of care for over 20 years with documented improvement in outcomes. Side-effects are common particularly endocrine and bone adverse effects. To date, there is limited information on the perception of glucocorticoid side effects by parents/guardians and those living with DMD.Aims:• To identify glucoc...

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved by the EMA as a once weekly treatment for children with GH deficiency (GHD). The peak stimulated GH cut-off value for diagnostic criteria for GHD varies according to country-specific guidelines. The objective of this subgroup analysis of the pivotal phase 3 somatrogon study was to evaluate the primary and secondary efficacy endpoints for subjects with a peak GH value <6.7...

Background: Fetal-derived androgen excess, such as 21-hydroxylase deficiency (21-OHD), is a major cause of 46,XX disorders of sex development (DSD), but there are rarely is due to maternal androgen excess such as that caused by adrenal tumors or luteoma.Recently, in addition to the classical androgen synthesis pathway, the alternative androgen synthesis by backdoor pathway and 11-oxygenated steroids has been reported for virilization of female patients with 21...

Objectives: The study aimed to observe and compare the short-term glycaemic outcome among Muslim type 1 diabetes mellitus (T1DM) children and adolescents using retrospective continuous glucose monitoring (CGM) before and during Ramadan month. The selection of retrospective CGM over real-time CGM conferred the benefit of representing the actual glycaemic impact of Ramadan fasting, especially relevant to developing Muslim nations that have less access to persona...

Context: Abnormal growth and short stature are observed in patients with mitochondrial disease but it is unclear whether there is a relationship between growth, stature and muscle phenotype.Objectives: To examine growth and final height in patients with genetically confirmed mitochondrial disease, to describe growth patterns in the principle underlying genetic subgroups and to establish whether stature is related to disease severity.<p class="abstext...

Summary: An 11 year old girl with poorly controlled type 1 diabetes mellitus (T1DM) presented with persistent lactic acidosis and transaminitis despite resolution of diabetic ketoacidosis (DKA), subsequently confirmed histologically to have glycogen hepatopathy (GH). This case describes a rare but known complication of poorly controlled DM and offers some novel insights in the management of GH.Clinical case: The patient had a history of poor compliance t...

Background and objective: The peak GH value plays a crucial role in the diagnosis of idiopathic growth hormone deficiency (iGHD). However, the prediction of peak GH in iGHD diagnosis is known to be limited. The purpose of this study was to evaluate the clinical and diagnostic usefulness of the total sum of GH values obtained from the GH stimulation test.Materials and methods: We retrospectively reviewed 178 prepubertal children who were diagnosed with iG...

Introduction: Pseudohypoparathyroidism (PHP) is a group of heterogenous disorders characterized by end organ resistance to parathyroid hormone (PTH) action. In 1942, Fuller Albright first described the phenotype of Albright Hereditary Osteodystrophy (AHO) associated with end organ hormone resistance (brachydactyly, rounded face, short stature, central obesity, subcutaneous ossifications, and variable degrees of mental retardation). Recently EuroPHP network pro...

Background: Glucocorticoid (GC) therapy is standard of care of management of Duchenne Muscular Dystrophy (DMD) but its use is associated with a range of side-effects. Weight gain leading to significant obesity is common in GC treated boys. There are limited studies evaluating body composition in DMD following initiation of GC, and the timing of increase in fat mass is not known.Aim(s): To evaluate changes in growth param...

Introduction: Pubertal suppression with gonadotrophin releasing hormone (GnRH) analogue is introduced after the onset of puberty in adolescents with gender dysphoria (GD). As puberty is a critical period for bone accrual and changes in body composition, alterations in body composition and bone mass may be observed during treatment.Methods: Thirty-eight adolescents (32/38 assigned females at birth) with GD had dual energy...