ESPE Abstracts

Encouraged by unimolecular dual incretin co-agonists (GLP1/GIP) to enhance glycemic efficacy (Finan et al. 2013, Sci Transl Med) and GLP1/glucagon co-agonists to enhance weight loss efficacy (Day et al. 2009, Nat Chem Biol) and to restore diet-induced leptin sensitivity (Clemmensen et al. 2014, Diabetes), we recently developed the first tri-agonist (GLP1/GIP/glucagon) for the treatment of metabolic disorders (Finan et al. 2014, Nat Med). Importantly, this concerted triple agon...

Introduction: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Despite current treatments, patients/caregivers report continued hypoglycemia according to the HI Global Registry 2020 Annual Report. Published literature characterizing hypoglycemia in CHI patients on standard of care (SOC) therapies is lacking.Objective: To quantify the extent of hypoglycemia in CHI...

Background: Intermittent breast budding (girls entering stage B2 and then subsequently regressing to B1) in healthy girls is a frequent phenomenon observed by most clinicians. However, little is known of normal progression of female puberty, and the phenomenon of transient breast development has, to our knowledge, never been studied in details.Objective and hypotheses: We present and validate the female Puberty Nomogram indicating age specific SD<...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of the steroid biosynthesis. 21-hydroxylase deficiency (21-OHD) represents 90–95% of CAH patients and causes adrenal insufficiency and virilization. Although most patients are diagnosed in childhood, the diagnosis of some classical CAH cases are extremely delayed up to sixth and seventh decades of life. Herein, we report a 46, XX patient with 21-OHD diagnose...

Introduction: Increasing incidence of male reproductive disorders may be due to fetal exposure to putative endocrine disruptor chemicals (EDCs), such as phthalates and phenols. Anogenital Distance (AGD) is a biomarker of fetal androgen action in animals, and has recently been linked to testicular dysgenesis syndrome in humans.Objective: To examine the relationship between prenatal phthalate and phenol exposure and birth AGD in male infants.<p class="...

Background: Glucose monitoring is vital in children with persistent hypoglycaemia to reduce the risk of adverse neuro-behavioural outcomes1. Continuous glucose monitoring (CGM) systems provide real-time glucose levels however; information on its usefulness in monitoring glucose levels in this cohort is limited2, 3.Objective: To ascertain the effectiveness of CGM and to evaluate parents’ experie...

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...

Background: Daily injections are currently required for growth hormone (GH) replacement therapy, which may cause poor compliance, inconvenience and distress for patients. MOD-4023 is a CTP-modified human GH (hGH) developed for once-weekly administration in growth hormone deficient (GHD) adults and children.Objective and hypotheses: In the present Phase 2 study, the safety and tolerability of once-weekly subcutaneous (SC) administration of MOD-4023 were a...

Background: Growth hormone (GH) replacement therapy currently requires daily injections, which may cause poor compliance, inconvenience and distress for patients. CTP-modified hGH (MOD-4023) has been developed by OPKO Biologics for once-weekly administration in growth hormone-deficient (GHD) adults and children.Objective and hypotheses: The 24-month efficacy of once-weekly subcutaneous (SC) administration of MOD-4023 was evaluated in a Phase 2 study in G...

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...