ESPE Abstracts

Background: Deficiency of microsomal membrane enzyme 5α reductase 2 impairs the DHT production and differentiation of external genitalia, seminal vesicles and prostate in males. The present study describes the Genotype-Phenotype in inter-familial and intra-familial patients with same mutation of SRD5A2 gene.Methods: All patients underwent detailed clinical evaluation, hormonal profile, karyotyping and molecular analysis of SRD5A2 g...

Background: Disorders of sex development (DSD) is a group of uncommon birth defects. Androgen excess in genetic females and androgen deficiency in genetic males can result in DSD. A child with ambiguous genitalia could be a virilized female or an under-masculinized male. Presented here is the socio-demographic profile, age at diagnosis, clinic 351al profile and etiology of patients with 46,XY DSD who are on follow up at our hospital.Objective and hypothe...

Background: Androgen insensitivity syndrome (AIS) is a rare disease due to end organ resistance of androgens. AIS is commonly caused by the mutations of androgen receptor (AR) gene located on chromosome Xq11-12. The mode of inheritance is hemizygous, where males get severely affected and females remain as carriers.Objective and hypotheses: Here, we describe the Phenotype–Genotype correlation and gender identity of pubertal and post pubertal...

Background: GH secretion is affected by duration and quality of sleep. Studies examining the connection between sleep and linear growth have reported conflicting results. Recently, we reported that nutritional supplementation was effective in promoting growth in children. In the present study, we extended our evaluation of the nutritional supplement to assess the association between nutrition, sleep and growth.Objective and hypotheses: To examine whether...

Background: There is a need to increase digital health literacy in paediatric endocrinology due to the rapid emergence of digital technologies. Massive open online courses (MOOC) provide an opportunity to rapidly increase digital health capabilities at scale, as previously demonstrated in diabetes.1 To our knowledge, there are no comparable examples in the field of growth hormone deficiency.Aim: This study evaluates the ...

Background: Over the last decade, and in light of the COVID-19 pandemic, there has been a substantial increase in the use of digital health tools to track growth and manage growth disorders in children. Paediatric endocrinologists acknowledge the usefulness of these tools in clinical decision making but lack confidence and skills to use them. Atique et al. designed a Massive Open Online Learning Course (MOOC) to increase digital health literacy, and identified...

Background: Abnormal uterine bleeding is a common complaint among adolescents, however, there are no evidence-based guidelines for their treatment, and there is a paucity of outcome data available.Objectives: To describe the characteristics of adolescents with menstrual abnormalities and to describe management protocol outcomes.Methods: This is a retrospective study, based on infor...