Delayed Puberty

Absence of pubertal changes by age 13 in girls, 14 in boys — also defined as no breast development by 14, or no testicular enlargement by 15. Common (~2% of adolescents). See also precocious puberty and short & tall stature.

Causes

Most common: familial delay — a history of delayed puberty in parents, aunts/uncles or siblings is helpful. Puberty may also be delayed by chronic illness.

Split by gonadotropin level:

Low/normal LH/FSH:

• Constitutional delay (usually familial)
• Chronic illness
• Endocrine: hypopituitarism, hypothyroidism, hyperprolactinaemia
• Inadequate nutrition (anorexia, excessive exercise)

Raised LH/FSH:

• Gonadal dysgenesis (Turner syndrome, Klinefelter syndrome)
• Anorchia
• Gonadal damage (vascular injury, torsion, radiation, mumps orchitis in boys)

Diagnosis and management

Look carefully for occult chronic disease (e.g. inflammatory bowel disease). If the diagnosis isn’t clearly familial delay, investigate:

• FBC, UEC, LFTs, CRP, iron studies
• Coeliac serology
• Thyroid function
• Karyotype
• Bone age X-ray
• Serum FSH/LH, testosterone, oestradiol
• Serum prolactin

Treatment is mostly directed at the underlying disorder and the psychological distress the delay causes. For significant distress — typically boys — consider paediatric endocrinology referral for testosterone therapy.