ESPE Abstracts

Background: In a Phase 3 trial in participants with obesity due to Bardet-Biedl syndrome (BBS) and Alström syndrome, setmelanotide was associated with significant reduction from baseline in body weight and hunger at Week 52 (primary endpoint), with outcomes driven by responses in individuals with BBS.Methods: In the same trial (NCT03746522), individuals with BBS or Alström syndrome were randomized and received ...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action. IGD is a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. However, there are no data on the prevalence, clinical characteristics, and mole...

Background: Genital abnormalities are a source of concern and anxiety to parents and patients and in some cases, for the physicians who may have difficulty making pathological and eventually genetic diagnosis. They range from simple small penis and labial adhesions to the complex genital ambiguity and disorders of sex development.Hypothesis: To determine the genital abnormalities presenting in the Paediatric endocrinology unit of the University of Port H...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...

A full-term baby girl born with birth weight of 2.75 kg (10th–25th percentile) had an uneventful perinatal course and no history of gestational diabetes. She was admitted to nursery on day 4 for poor feeding. Physical examination was unremarkable. Blood glucose was 0.6 mmol/l upon admission and urine ketone was negative. Electrolytes and blood gas were normal. Glucose infusion rate of 11 mg/kg per min was required to maintain euglycemia. Critical samples revealed insulin ...

Background: Bone marrow transplantation (BMTx) involves pre-conditioning regimens that compromise fertility Delayed puberty and hypogonadism are common in children with beta thalassemia major, due to chronic disease and transfusion requirements, due to iron overload in endocrine glands.Objective and hypotheses: Pubertal induction using hCG and FSH prior to gonadotoxic conditioning before BMTx should result in spermatogenesis sufficient to store sperm. We...

Background: Wolfram syndrome, also known as Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness (DIDMOAD), is a rare neurodegenerative disease of autosomal recessive inheritance with incomplete penetrance. In addition, it may present with different endocrine and metabolic abnormalities such as pituitary dysfunction. We reported clinical features, biochemical features and mutational analysis of a boy with Wolfram syndrome.Case presentation: A 7...

Background: Normal function of the thyroid gland is essential for adequate neurological development of the fetus and child. In previous studies, associations between reduced birth weight and overt maternal and fetal thyroid dysfunction have been described. We hypothesize that also variations within the normal range of fetal thyroid function have an impact on fetal and neonatal growth.Objective: The aim of this study is to investigate whether thyroid horm...

Background: The incidence of osteogenesis imperfecta (OI) worldwide is unknown. In the USA, the incidence is ~1/20 000 live births: for Indonesia (population 240 million) this should extrapolate to 12 000 OI patients rather than the 35 patients currently registered with the Indonesian Pediatrics Society (IPS), Faculty of Medicine, University of Indonesia-Cipto Mangunkusumo Hospital (RSCM). This enormous disconnect signifies many missed diagnoses, mortality or both.<p class...

Background: Most cases of multiple pituitary hormone deficiency (MPHD) are acquired and genetic aetiology is rare in the UK. We have investigated whether environmental factors are implicated in ‘idiopathic’ MPHD (IMPHD).Objective and hypotheses: In IMPHD to determine perinatal risk factors and radiological features; to identify the regional epidemiology.Method: Systematic analysis of paediatric IMPHD cases in the UK West ...