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Delayed Puberty

This is defined as the lack of pubertal development by 13 years in girls and 14 years in boys. The most common cause of it is Constitutional delay (affects both growth and puberty), in which a child enters normal puberty later than their peers i.e. “Late bloomers”.


Hypogonadotrophic Hypogonadism

This is where there's a deficiency of LH and FSH, which leads to low testosterone and oestrogen.


Causes:

  • Damage to Hypothalamus or Pituitary (e.g. surgery, cancer)

  • GH deficiency

  • Hypothyroidism

  • Hyperprolactinaemia

  • Excessive exercise or dieting

  • Kallman syndrome


Hypergonadotrophic Hypogonadism

This is where the gonads fail to respond to stimulation from LH and FSH. This causes a raised LH and FSH (due to negative feedback), but a low testosterone and oestrogen.


Causes:

  • Previous damage to Gonads (e.g. torsion, cancer, infection)

  • Congenital absence of gonads

  • Turner’s syndrome

  • Kleinfelter’s syndrome


Investigations

Very important to do a Wrist XR in these patients to estimate bone age as it will indicate if constitutional delay is present or not.


Other investigations to do include:

  • Bloods – FBC, U&E, LH, FSH, TFTs, IGF-1, Prolactin, Anti-TTG

  • Genetic testing – Turner’s, Kleinfelter’s

  • Imaging – Pelvic US in girls, MRI Brain (check for pituitary/hypothalamus pathology)




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