Searchable abstracts of presentations at key conferences in endocrinology

ea0090p717 | Reproductive and Developmental Endocrinology | ECE2023

Phenotypic and genotypic variation in pubertal presentation among patients with self-limited delayed puberty and hypogonadotrophic hypogonadism

Aung Yuri , Kokotsis Vasilis , Howard Sasha

Introduction: Delayed puberty (DP), affecting over 2% of adolescents, is defined as pubertal onset at 2-2.5 SDs later than the general population. Two common underlying aetiologies are self-limited DP (SLDP) and congenital hypogonadotrophic hypogonadism (HH). However, these can be difficult to discern between on first presentation of a patient to endocrinology services. This study sought to elucidate phenotypic and genotypic differences between the two diagnoses in order to op...

ea0095oc5.6 | Oral Communications 5 | BSPED2023

Can clinical, biochemical and genetic parameters help distinguish congenital hypogonadotrophic hypogonadism from self-limited delayed puberty?

d'Aniello Francesco , Aung Yuri , Kokotsis Vasilis , Howard Sasha R

Delayed puberty (DP) is defined as pubertal onset 2-2.5 SDs later than the general population. The most common aetiology is self-limited DP (SLDP). However, during adolescence, it is a clinical challenge to differentiate SLDP from the more severe disease congenital hypogonadotrophic hypogonadism (HH). This study sought to elucidate phenotypic and genotypic discrepancies between the two diagnoses to improve diagnosis and management. This was a retrospective study of a UK DP coh...