ESPE Abstracts

Introduction: Published studies on pubertal growth of SGA patients on GH therapy are scarce. An earlier and shorter duration of puberty has been described. Treatment optimization may be necessary and also know their influence on adult height.Objetives: Analyse the evolution of height durig puberty in SGA patients treated with GH. Asses the age of onset of puberty and its relationship to adult and target height.Methods: Retrospectiv...

Background: Newborn (NB) screening programs show a wide variation in congenital hypothyroidism (CH) incidence along the years.Objective and hypotheses: To describe CH incidence, etiology, associated malformations and Down Syndrome (DS) in children detected by our NB Screening Program. To search differences between permanent CH (PCH) and transient forms (TCH).Method: We analyzed NB with positive screening results referred between A...

Background: Homozygous aggrecan (ACAN) mutations have been described in a few skeletal dysplasias whilst more recently, heterozygous ACAN mutations have been reported in few families presenting with idiopathic short stature with advanced bone maturation and premature growth cessation.Case presentation: We describe two novel heterozygous ACAN stop mutations, detected using a skeletal dysplasia NGS panel and confirmed by Sanger sequencing...

Background: Use of recombinant human growth hormone (somatropin) is recommended for children with growth hormone deficiency (GHD) to normalize adult height and avoid extreme short stature. Prior research conducted among small study samples, across different study populations and health care systems, has suggested an association between adherence to somatropin and clinical outcomes, including height velocity. There is a need for further research, using real-wor...

Introduction: Autoimmune thyroid diseases (ATD) are the most common autoimmune disorders associated with type 1 diabetes (T1D). Most patients present hypothyroidism. Although hyperthyroidism is less frequent, severe forms of thyrotoxicosis coexisting with diabetic ketoacidosis (DK) have been described in children with either preexisting diabetes, thyroid disease, or both. Celiac disease (CD) incidence is higher and ranges from 0.6-16.4%....

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

Context: Prenatal dexamethasone (Dex) therapy is used in female foetuses with congenital adrenal hyperplasia (CAH) to suppress adrenal androgen excess and prevent virilisation of the external genitalia. The prenatal dexamethasone dose of 20 µg/kg/d has been used for decades in prenatal CAH. Despite the risks for the treated mother and potentially for the unborn child, no clinical study or evaluation had been conducted in order to determine a Dex dose with a scientific rat...

Introduction: The results of the phase III clinical trial that evaluated the efficacy and safety of the biosimilar recombinant human GH - rhGH - (Omnitrope®, Sandoz) on the treatment of Spanish children with GH deficiency were published in 2011. At the end of the study those patients that were still growing remained on treatment within the usual clinical practice.Objective: To know the values of adult height of the children who participat...

Background: Prenatal dexamethasone (DXM) treatment has been proposed to prevent genital virilization in girls with congenital adrenal hyperplasia (CAH), however its safety has been questioned for potential adverse effects on the foetus and the mother.Objective and hypotheses: To analyse clinical practice and prenatal treatment experience with DXM during pregnancy at risk of having her daughters with severe CAH.Method: An online sur...

Background: Seip-Berardinelli syndrome is a rare form of congenital lipodystrophy.Objective and hypothesis: To report a patient later diagnosed with Seip-Berardinelli syndrome referred initially for evaluation due to low weight gain.Population and/or methods: We performed the report of the case along with a literature review.Results: The patient was referred due to low weight gain. She was the second daughter...