EndocrinologyTier 2Disease (DEADMAN)

Delayed puberty

Description

Delayed puberty (absence of pubertal onset by an age threshold beyond the population norm - conventionally around age 13 in girls and 14 in boys) reflects either constitutional delay (a normal variant, the most common cause) or an underlying pathological cause (central hypogonadotrophic hypogonadism, primary gonadal failure, or a chronic systemic illness/nutritional cause)

Constitutional delay of growth and puberty is the most common cause, often with a positive family history of similarly delayed puberty in a parent, and is a diagnosis of exclusion after pathological causes have been reasonably excluded

Delayed puberty reflects inadequate hypothalamic-pituitary-gonadal axis activation at the expected age - gonadotrophin levels (LH/FSH) distinguish the broad category: low/inappropriately normal gonadotrophins suggest central (hypothalamic-pituitary) delay or dysfunction, while elevated gonadotrophins suggest primary gonadal failure with an appropriately attempting-to-compensate pituitary

History (growth pattern, family history of delayed puberty, chronic illness/nutritional history, sense of smell - relevant to Kallmann syndrome), examination (Tanner staging, growth chart review, dysmorphic features), and bone age assessment (typically delayed in constitutional delay, correlating better with pubertal stage than chronological age) form the initial work-up
Gonadotrophin and sex hormone levels, and further pituitary/genetic testing where a pathological cause is suspected, complete the biochemical work-up

Constitutional delay: reassurance and monitoring is often sufficient, since spontaneous pubertal onset will eventually occur - short-course sex hormone treatment can be considered for significant psychosocial distress in older adolescents
Pathological causes: treatment targets the underlying cause (e.g. hormone replacement for hypogonadotrophic hypogonadism, management of the underlying chronic illness/nutritional deficit)

Constitutional delay of growth and puberty (most common, family history-associated), Kallmann syndrome (anosmia plus hypogonadotrophic hypogonadism), Turner syndrome and Klinefelter syndrome (primary gonadal failure causes), chronic illness/malnutrition-associated delay (e.g. coeliac disease, eating disorders)

Bone age (rather than chronological age) correlates more closely with pubertal stage in constitutional delay - a bone age appropriately delayed and consistent with the current pubertal stage supports reassurance and continued observation, while a bone age discordant with the clinical picture should prompt more active investigation for a pathological cause

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