ESPE Abstracts

Aim: Case report of an 18-month-old child with a background of vitamin D dependent rickets type 1(VDDR1)], due to a mutation of CYP27B1 (c.1319_1325dup and c.335C>T: compound heterozygote).Methods: Presentation of the case and the management of hypocalcemia as well as the complications of follow-up.Results: The patient presented at the A&Es of the 2nd Department of Pediatric...

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

Introduction: Congenital central hypothyroidism is a rare pathology, whose molecular origin has been identified more frequently since discovery of the role of IGSF1. The natural evolution of central hypothyroidism in patients with mutations is not well known however.Case report: A male infant born at term with a normal birth weight received thyroid function tests in the neonatal period because of symptoms of bra...

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...

Background: Adrenocortical Tumors (ACT) is a rare endocrine malignancy with heterogeneous presentation.Aim: To evaluate the clinical, biochemical and pathologic characteristics of pediatric ACT in a single tertiary center.Subjects and methods: Review of 28 medical records with childhood ACT (chronological age (CA) <18 years (y) treated between 1987 and 2017. Clinical, biochemical, and histological features (Wieneke index), stag...

Background: FGF21 is a metabolic and growth regulator.Aim: To investigate the role of FGF21 during growth in infancy.Methods: Cohort of 40 term (T) and 40 preterm (PT) newborns whose length and weight were evaluated prospectively at birth, 6 months, and 12 months. Blood samples for FGF21, IGF1, leptin, insulin and glucose were collected at 6 and 12 months. In addition, FGF21, I GF-I, leptin, and insulin were measured in cord blood ...

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...

Introduction: Congenital adrenal hyperplasia (CAH) is associated with long-term health problems. However, little is known about co-morbidities and their onset in children and young persons (CYP).Objective: To establish the health status of CYP with CAH across the United Kingdom.Methods: A multi-centre prospective study recruited 102 patients with 21-hydroxylase deficiency targeting...

Background/aims: The high complexity of Pediatric reference ranges across age, sex and units impairs clinical application and comparability of steroid hormone data, e.g., in CAHs. We developed a Multiples-of-Median (MoM) normalization tool to overcome this major drawback in Pediatric Endocrinology.Methods: LC–MS/MS data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to >16 years) from two previous datasets we...