ESPE Abstracts

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: Treating central precocious puberty with GnRH agonist (GnRHa) to increase height gain is well-established. Although not recommended, GnRHa have also been used in patients with IGHD at onset of puberty yet there are few data on its efficacy.Objective and hypotheses: Growth prediction models derived from KIGS (Pfizer International Growth Database) may provide an opportunity to estimate additional height gain produced by pubertal blockade.<p...

Background: Short stature is a recognized complication of Crohn’s disease (CD) in children. Less is known on the impact of disease on final adult height and body proportions.Objective and hypotheses: To assess height and body proportions in 48 adults (F: 30; M: 18) with childhood (ACO) or adult (AAO) onset CD and 44 children (C) (F:22; M:22) with CD.Method: Standing, sitting height (SH) and leg length (SILL) were measured and ...

Background: Traumatic brain injury (TBI) is a frequent cause of endocrine dysfunctions. However, studies in children are scarce.Objective and hypotheses: To determine pituitary function in children after TBI. To analyze risk factors related with endocrine dysfunctions after 12 months follow up.Method: A prospective study of endocrine function in children after head injury was performed. Data was collected for baseline Glasgow coma ...

Background: Associations between foetal androgen deficiency and variations in anogenital distance (AGD) suggest that AGD is a reliable indicator of foetal androgen exposure. Similarly, variation in postnatal penis growth associated with variations in testosterone show penis growth to be a potential biomarker of early postnatal androgen exposure. Though variation in early androgen exposure is also hypothesized to underlie neurobehavioral masculinisation, until now, no reports h...

Background: In children undergoing investigation of testicular function the relationship between serum anti-Mullerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Method: 75 children (3F, 72M) with a median age of 1.08 years (range, 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an additional prolonged HST. Normal te...

Background: Otological problems in Turner syndrome (TS) are notoriously common and troublesome, often requiring intervention with adeno-tonsillectomy, insertion of ventilation tubes and occasionally resulting in serious disease such as cholesteatoma.Survey of otological problems in the West of Scotland: A case note review of 174 girls attending the Turner clinic in Glasgow, Scotland from 1989–2015 found that of 155 patients in whom data were availab...

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: Classical and non-classical congenital lipoid adrenal hyperplasia (CLAH) are extremely rare condition caused by mutations in StAR. The degree of enzyme activity impairment determines the clinical phenotypes.Objective and hypotheses: To identify the genetic cause of primary adrenal insufficiency in a cohort of patients from 13 unrelated families with classical and non-classical CLAH, to correlate genotype to phenotype and to identify ...

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...