ESPE Abstracts

Background: The most frequent cause of familial growth hormone deficiency (GHD) is Type II autosomal dominant GHD (isolated GHD type II) due to several heterozygous GH1 mutations.Method: Genomic DNA from patients with familial GHD was enriched for the coding exons using hybrid capture technology and GH1 was sequenced using Next Generation Sequencing technology. Plasmids containing genes for WT and A34T GH1 were transfected into NCI HEK2...

Background: Hypogonadotrophic hypogonadism (HH) is a complex developmental disorder characterized by a reduction in gonadotrophins (LH, FSH) released from the anterior pituitary. LH and FSH stimulate the ovaries or testes to release sex hormones that cause the onset of puberty, therefore delay in onset or complete absence of puberty is seen in the phenotype, often accompanied by short stature and genital abnormalities. When anosmia accompanies HH in the phenotype it is termed ...

Background: Bone marrow transplantation (BMT) is known to affect endocrine function, most commonly causing primary hypothyroidism and hypogonadism in children. Newer reduced intensity conditioning (RIC) uses less myeloablative chemotherapy and no irradiation. Our study goal was to evaluate endocrine effects at 1 year post BMT in pediatric patients who received RIC.Methods: Retrospective, IRB-approved chart review was performed on 121 patients (44 females...

Background: 11-oxygenated 19-carbon (11oxC19) steroids, 11ketotestosterone (11KT) and 11βhydroxyandrostenedione(11OHA4) are adrenally derived steroids that rise in congenital adrenal hyperplasia (CAH). Increased 11oxC19 concentrations are associated with markers of poor control of CAH. To date, 11oxC19 concentrations have not been measured in patients with Addison’s disease (AD).Methods: Children with primary ...

Introduction: Kisspeptin is a neuropeptide, encoded by the KISS1 gene, which acts upstream of gonadotropin-releasing hormone (GnRH) neurons and also has a critical role for maturation and function of the reproductive axis. Inactivating mutations of its receptor (KISS1R) cause normosmic isolated hypogonadotropic hypogonadism (IHH). In this report, we aim to present three siblings who have IHH due to novel compound heterozygous KISS1R mutation.Cas...

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing were shown to carry a mutation in the X-linked StAR-related lipid transfer...

Background: rhGH therapy may improve linear growth in children with inflammatory bowel disease (IBD). Poor bone health and abnormal body composition are recognised complications in paediatric IBD.Objective and hypotheses: To investigate the effects of rhGH on bone health and body composition.Method: Sub-analysis of 13 children with IBD (12CD; 1UC) in a randomized controlled trial. Either rhGH (0.067 mg/kg per day) as daily s.c. inj...

Introduction: Multinodular goiter is an extremely rare condition in neonates and can account for tracheal airway compression.Case report: A newborn girl presented immediately after birth with an inspiratory and expiratory stridor and a visible swelling in the neck. She was born term after an uneventful pregnancy with a birth weight of 3.26 kg. The mother had no known thyroid disease and had not used antithyroid or goitrogenic medication. She had a normal...

Background: There is little information on growth and fractures in boys with Duchenne Muscular Dystrophy (DMD).Objective & hypotheses: To determine the extent of growth & skeletal morbidity in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were analysed following categorisation into five age groups: A:<5 years (n, ...