Delayed puberty and hypogonadism in adolescents — formative SAQs

SAQ 1 (10 marks)

A 14-year-old boy is referred because he is the shortest in his class and has no signs of puberty. His father recalls being "always the smallest until age sixteen," and his mother reached menarche at 16. On examination his testicular volumes are 3 mL bilaterally, his height is on the 3rd centile (mid-parental target on the 40th), his growth velocity is normal, and his bone age lags his chronological age by two and a half years. ^{[1] [2]}

a) Define delayed puberty for this boy and explain why the triad of short stature, delayed bone age and family history points to constitutional delay of growth and puberty. (3 marks) ^{[1] [2]}

b) Outline the first-line investigations you would request, and explain how the gonadotrophin result would split the differential into a central versus a gonadal cause. (2 marks) ^[1]

c) Discuss how you would separate constitutional delay from permanent congenital hypogonadotropic hypogonadism at this presentation, including the role of anosmia testing, the neonatal history, and the standing-height trajectory. (3 marks) ^{[1] [6]}

d) Describe the management of constitutional delay, including the indications for and the protocol of a short course of testosterone. (2 marks) ^[12]