Define Delayed Puberty. Describe its causes and management.

Definition

Delayed puberty is the absence of secondary sexual characteristics by 13 years in girls and 14 years in boys (or failure to progress through puberty).

Causes

• Constitutional delay of growth and puberty — the commonest (a normal variant, often familial; delayed bone age).
• Hypogonadotropic hypogonadism (low LH/FSH) — chronic illness, malnutrition, hypothyroidism, Kallmann syndrome, pituitary disease.
• Hypergonadotropic hypogonadism (high LH/FSH — primary gonadal failure) — Turner syndrome (girls), Klinefelter syndrome (boys), gonadal damage.

Evaluation & Management

• History, examination, bone age, LH/FSH (to separate the two hypogonadism groups), and karyotype where indicated.
• Constitutional delay — reassurance ± a short course of low-dose sex steroids.
• Treat the underlying cause; sex-steroid replacement for permanent hypogonadism.

Features of Specific Causes

• Turner syndrome (45,X) — short stature, webbed neck, widely spaced nipples, ovarian failure.
• Klinefelter syndrome (47,XXY) — tall, small firm testes, gynaecomastia, infertility.
• Kallmann syndrome — hypogonadotropic hypogonadism with anosmia.

Management Detail

• Constitutional delay — reassurance; a short course of low-dose testosterone (boys)/oestrogen (girls) can be offered for distress.
• Permanent hypogonadism — pubertal induction and maintenance with sex steroids; treat the underlying condition.

Pattern Recognition

• Short girl with delayed puberty → think Turner syndrome (karyotype).
• Tall boy with small testes → think Klinefelter syndrome.
• Delayed puberty with anosmia → Kallmann syndrome.