ESPE Abstracts

Introduction: Mental health comorbidities are getting more recognized in children with chronic illness like Type 1 Diabetes Mellitus (T1DM). Increased rates of depressive symptoms and anxiety dis¬orders in pediatric patients with TIDM have been found in many previous studies. However, not much literature is available regarding impact of multidisciplinary intervention in pediatric patients with T1DM in developing countries where there is increased patient l...

Abstract Withdrawn...

Background: The estimated prevalence of beta thalassemia is 3–8% in India, Pakistan, Bangladesh and China. The combination of regular blood transfusions and chelation therapy has dramatically increased the life expectancy of thalassemics, but it has led to iron overload and chelation toxicity, with many complications including – growth failure, gonadal dysfunction, hypothyroidism, hypoparathyroidism, DM, etc.Objective and hypotheses: To study t...

Background: A quarter of young adults with cystic fibrosis (CF) may have osteoporosis. However, children with CF do not seem to have an increased risk of fractures.Objective: We aimed to examine the factors that may determine longitudinal changes in bone mineralisation in children with CF.Method: 101 children (51 females) had DXA performed and the data were expressed as expected bone mineral content for bone area SDS (BMCSDS). Of t...

Background: The anogenital distance (AGD) is considered a valid marker of altered androgen action in utero. Recently, reduced AGD has been shown in males with hypospadias, cryptorchidism, reduced semen quality and infertility. It has also been proposed as a new marker to be used by clinicians when managing patients with Disorders of Sex Development. However, little normative data exist and measurement methods vary.Objective and hypotheses: We established...

Background: Anogenital distance (AGD) is an indicator of androgen action in utero. Reduced AGD has been found in males with hypospadias, cryptorchidism, low semen quality and infertility. Its usefulness as a clinical marker in patients with Disorders of Sex Development (DSD) is currently being investigated. However, detailed age, sex and method related reference ranges do not exist. Whether individual (body-size-adjusted) AGD is stable postnatally also remains to be e...

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...