ESPE Abstracts

The activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first six months of life in boys marks the period of “mini-puberty”. It is characterized by a surge of gonadotropins, testosterone, and an increase of Sertoli cells and germ cells, crucial for future reproductive capacity. Boys with severe congenital hypogonadotropic hypogonadism (CHH) often present with undescended testes and micropenis and lack mini-puberty, leading to impaired responses to central hormone replacement therapy later in life, and consequently, decreased fertility. The mini-puberty phase is a window of opportunity to diagnose these patients at an early age before the HPG axis goes into a quiescent period until puberty. Currently, some clinicians treat male infants with CHH with topical or intramuscular testosterone or dihydrotestosterone. This treatment strategy might facilitate penile growth and scrotal development, but does not induce Sertoli cell development and expansion. Over the past two decades, various treatment strategies with central hormone agents have been studied in case series with promising results in regards to penile length, Sertoli cells and germ cell expansion and testicular descent. However, at present there is neither a consensus on the diagnosis nor on the ideal management of male infants with CHH, leaving clinicians around the world uncertain. We have launched a global survey that aims to gather data on the clinical management of male infants with CHH. The survey was created by an international consortium of paediatric endocrinologists. The survey is easy and quick to complete via the online platform 'Jotform’ and captures data on referral pathways, investigations for absent mini-puberty and diagnosis of CHH, as well as replacement therapy of mini-puberty with either testosterone or central hormones. Distribution channels for this survey include society newsletters, national and international conferences, societal working groups and email snowball strategy targeting all clincians responsible for the care of these boys. Results of the survey will depict the current landscape of approaching disrupted male mini-puberty and will guide efforts to address barriers to diagnostic testing and optimal management for CHH.