Disorders of puberty

1. Big picture

Puberty disorders are problems in the timing, sequence, tempo, or completeness of sexual maturation. For the exam, always think in one organized axis:

Hypothalamus → GnRH pulses
        ↓
Pituitary → FSH + LH
        ↓
Ovary → oestradiol production
        ↓
Breast development, uterine growth, endometrial maturation, menarche

The two main clinical questions are:

1. Too early? → precocious puberty.
2. Too late or incomplete? → delayed puberty, primary amenorrhoea, absent secondary sexual development.

The examiner also expects you to recognize dangerous puberty presentations:

Early puberty + rapid progression → CNS lesion or hormone-secreting tumour
Delayed puberty + short stature → Turner syndrome until proven otherwise
Primary amenorrhoea + cyclic pain → outflow obstruction, e.g. imperforate hymen
Amenorrhoea + normal breasts + absent pubic hair → androgen insensitivity syndrome
Adolescent heavy bleeding → anovulation common, but exclude pregnancy/coagulopathy

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