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...

ea0090p715 | Reproductive and Developmental Endocrinology | ECE2023

A systematic review of gonadotropin and GnRH therapy for the induction or completion of puberty in males with hypogonadotropic hypogonadism

Alexander Emma , Faruqi Duaa , Farquhar Robert , Unadkat Ayesha , Ng Yin Kyla , Kokotsis Vasilis , Howard Sasha

Background and aims: Hypogonadotropic hypogonadism is characterised by inadequate secretion of gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)) leading to absent, partial or arrested puberty. In males, classical treatment with testosterone promotes virilisation but does not facilitate testicular growth or spermatogenesis. Conversely, treatment with gonadotropins or gonadotropin-releasing hormone (GnRH) stimulates Sertoli and Leydig cells directly...

ea0085oc5.2 | Oral Communications 5 | BSPED2022

Central Delayed Puberty in Adolescence: Differentiating the phenotypes of Congenital Hypogonadotropic Hypogonadism and Self-Limited Delayed Puberty

Kokotsis Vasilis , Burchett Caroline , Butler Gary , Dattani Mehul , Hughes Claire , McGuigan Michael , Shah Pratik , Willemsen Ruben , Howard Sasha

Congenital hypogonadotropic hypogonadism (CHH) is a pathological condition characterised by lack of pubertal onset and must be differentiated from self-limited delayed puberty (SLDP). There is a significant overlap between these two conditions both in clinical and biochemical features, with current diagnostic approaches lacking sensitivity. Thus, paediatric endocrine clinicians are faced with difficulty in ascertaining the correct diagnosis in adolescence. The presence of cert...