Definition and causes of delayed puberty in males

Delayed puberty in males is defined as the absence of testicular enlargement (ie testicular volume less than 4 mL as assessed using an orchidometer) by age 14 years. Acne, body odour and body hair can occur in the absence of testicular enlargement, and may be due to adrenarche (normal adrenal gland hormonal production). Referral for delayed puberty is not needed before 14 years, unless the male is already known to have an underlying condition that will delay puberty.

Causes of delayed puberty in males include:

• constitutional delay (ie delay in completing spontaneous puberty—a normal variant often associated with a family history of delayed puberty); it is the cause for delayed puberty in most males
• a chronic medical condition, accounting for a small number of cases (differentiation from constitutional delay can be difficult)
• permanent hypogonadotrophic hypogonadism; this is rare and is either idiopathic (including some forms of Kallmann syndrome¹) or due to hypopituitarism
• primary testicular disorders, such as Klinefelter syndrome².