Delayed puberty: Definition, causes and management

Delayed puberty is defined as the failure of secondary sexual characteristics to appear by the age of 14 years.

Delayed puberty is classified based on the causes into two:

  • central (hypogonadotrophic hypogonadism)
  • gonadal (hypergonadotrophic hypogonadism).

Central causes of delayed puberty includes conditions that prevent hypothalamic GnRH production/release, such as:

  • Constitutional
  • Excessive exercise
  • Anorexia nervosa
  • Kallman’s syndrome
  • Pituitary tumour
  • Chronic illness (sickle cell disease, diabetes mellitus, etc).

Gonadal causes include:

  • Turner’s syndrome
  • XX (pure) gonadal dysgenesis
  • Premature ovarian failure, caused by autoimmune diseases, chemotherapy/radiotherapy exposure and idiopathic causes.

Investigations for delayed puberty

  • Assay of serum LH and FSH
  • Karyotype
  • Radiological: Pelvic ultrasound, brain CT scan, skull X-ray and MRI

Treatment of delayed puberty

  • Constitutional delayed puberty require no drug treatment; only counselling and follow-up.
  • Central causes are managed with pulsatile gonadotrophin administration or low dose oestradiol 1-2ug per day for 3-6 months.
  • Gonadal cause are treated with oestrogen (and progesterone) replacement.