ESPE Abstracts

Background: The approach to investigating a newborn with a suspected DSD is likely to vary between centres and may be influenced by local availability.Method: To explore the current diagnostic practice and needs, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.Results: A total of 77/124 (62%) clinicians, in 74 centres, from 38/42 (91%) countries res...

Background: Isolated Growth Hormone Deficiency (IGHD) is usually associated with a delayed bone age. A genetic cause for IGHD is more frequently found in patients with familial cases and/or consanguineous parents.Objective and hypotheses: To diagnose the genetic cause of IGHD and clarify the unusual clinical presentation of advanced bone age in one patient born to consanguineous parents.Method: Sanger sequencing of GH1, <e...

Background: VRS-317, a novel fusion protein of rhGH exhibiting delayed clearance, serum half-life generally >100 h, and potential for once monthly dosing, was previously evaluated in a 6-month phase 1b/2a study of weekly, twice monthly or monthly dosing (5.0 mg/kg per month) in prepubertal GHD children (n=64).Objective and hypotheses: We evaluated whether increased VRS-317 dose from 12 to 18 months can offset the decrease in height velocitie...

Differences of sex development (DSD) occurs when the development of chromosomal sex, gonadal or internal/external genitalia is atypical. It has an incidence of 1: 1000-4500 live born children. New chromosomal array technologies (SNP-array) can analyze the genome of the individual providing information of copy number variation (CNV) of specific chromosomal regions helping to identified pathogenic variants that could explain the etiology of the DSD. This study aims to analyze th...

Introduction: DSD patients present varied degrees of atypical genitalia. The social sex assignment and the surgery decisions must be proceeded by a multidisciplinary team approach with the family. Surgeries should be only performed by experienced surgeons. The current trend is the early correction, but some patients and non-governmental entities argue that the surgeries should be delayed until the patient’s consent.Objective...

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the AR gene, including exons and the 5’UTR region. Psychosexual variab...

Papillary cancer represents majority of thyroid malignancies in children. However prognosis remains very successful. In recent years, we use elastography, except biopsy and standard ultrasonography in thyroid lesions diagnostic. We present a case of a male patient at the age of 13 years, with a history of ADHD and school phobia who was referred to Endocrinology Outpatient Clinic due to partial empty sella syndrome. Family history of endocrinological disorders was negative. Ph...

Introduction: Lockdown measures following the COVID-19 pandemic are shown to have greatly affected lifestyle behaviours and health-related quality of life (HRQoL) of children. The impact on children with severe obesity has not yet been described. Aim of this study was to investigate the impact of COVID-19 lockdown on eating behaviours, physical activity (PA), screen time, and HRQoL of children (including adolescents) with severe obesity....

Achondroplasia (ACH) is the most common form of dwarfism, occurring in 1: 20,000 births. ACH is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that interfere with endochondral ossification. Clinically significant morbidities are frequent in ACH; however, there are currently no approved therapies that target the underlying pathobiology. C-type natriuretic peptide (CNP) is an attractive target as it has the potential to inhi...

Background: An underestimated figure of 1,249 children with type 1 diabetes mellitus (T1DM) was diagnosed in Indonesia from 2017 to 2019. In 2021, there were around 0.05 paediatricians per 1,000 children in Indonesia. Only 1.2% (n=54) were pediatric endocrinologists practising in 17 out of 38 provinces populating urban areas in Indonesia. Therefore, Changing Diabetes in Children (CDiC) Indonesia, a public-private partnership, has delivered training fo...