🧠 Central precocious puberty
Idiopathic, CNS tumour, CNS malformation, previous cranial irradiation, hydrocephalus, infection or trauma |
- Progressive normal-sequence puberty.
- Girls: breast development then growth spurt ± menstruation.
- Boys: testicular enlargement, penile growth, pubic hair, voice change.
- Growth acceleration and advanced bone age.
- Headache or visual symptoms if CNS lesion.
|
- Growth chart and pubertal staging.
- Bone age X-ray.
- Basal LH/FSH ± GnRH stimulation test.
- Oestradiol or testosterone.
- MRI brain, especially boys, very young girls, neurological symptoms or rapidly progressive puberty.
- Pelvic ultrasound in girls may support assessment.
|
- Paediatric endocrine referral.
- GnRH analogue therapy if progressive and likely to compromise height or psychosocial wellbeing.
- Monitor height velocity, Tanner stage and bone age.
- Treat CNS lesion if identified.
|
⚡ Peripheral precocious puberty
Gonadotrophin-independent sex steroid production |
- May be atypical or out of normal pubertal sequence.
- High sex-steroid effects but small prepubertal testes in boys if adrenal/testosterone source.
- Virilisation in girls or feminisation in boys.
- Rapid growth and advanced bone age.
|
- LH/FSH usually suppressed.
- Testosterone or oestradiol raised depending on presentation.
- DHEAS, androstenedione, 17-hydroxyprogesterone if adrenal source suspected.
- Pelvic/testicular/adrenal imaging depending on hormone pattern.
- Consider tumour markers: AFP, beta-hCG.
|
- Treat underlying cause.
- Urgent endocrine referral if virilisation, tumour suspicion or rapid progression.
- Surgery/oncology if tumour identified.
- Specialist anti-androgen or aromatase inhibitor therapy may be used in selected cases.
|
🧬 Congenital adrenal hyperplasia
Usually 21-hydroxylase deficiency |
- Early pubic or axillary hair.
- Rapid growth but advanced bone age.
- Virilisation in girls.
- Severe salt-wasting form: vomiting, dehydration, shock, hyponatraemia, hyperkalaemia.
|
- 17-hydroxyprogesterone raised.
- U&E: hyponatraemia/hyperkalaemia if salt-wasting.
- Renin/aldosterone where appropriate.
- Androgens: testosterone, androstenedione, DHEAS.
- Genetic testing may confirm CYP21A2 mutation.
|
- Urgent paediatric endocrine management.
- Glucocorticoid replacement.
- Mineralocorticoid and salt replacement if salt-wasting.
- Emergency hydrocortisone for adrenal crisis.
- Monitor growth, puberty, bone age and adrenal androgen control.
|
| 🟤 McCune-Albright syndrome |
- Classically café-au-lait patches with irregular “coast of Maine” borders.
- Peripheral precocious puberty, often episodic vaginal bleeding in girls.
- Fibrous dysplasia of bone, bone pain or fractures.
- May have hyperthyroidism, growth hormone excess or Cushing syndrome.
|
- Clinical pattern.
- Oestradiol may be intermittently high with suppressed LH/FSH.
- Pelvic ultrasound may show ovarian cysts.
- Bone imaging if fibrous dysplasia suspected.
- Genetic testing is complex because mutation is mosaic.
|
- Specialist endocrine management.
- Treat endocrine overactivity.
- Manage bone disease and fracture risk.
- Consider specialist anti-oestrogen/aromatase inhibitor strategies if appropriate.
|
| 🎗 Gonadal or adrenal tumours |
- Rapid pubertal progression.
- Virilisation in girls or feminisation in boys.
- Abdominal/pelvic/testicular mass may be present.
- Markedly raised sex steroids.
|
- Testosterone, oestradiol, DHEAS, androstenedione.
- LH/FSH often suppressed.
- Pelvic ultrasound or testicular ultrasound.
- Adrenal ultrasound/CT/MRI depending on suspected source.
- AFP, beta-hCG and other tumour markers if indicated.
|
- Urgent paediatric endocrine and surgical/oncology referral.
- Surgical resection where appropriate.
- Oncology treatment if malignant.
- Monitor hormone levels, growth and recurrence.
|
💊 Exogenous hormone exposure
Oestrogen, testosterone, HRT gel, anabolic steroids, contaminated products |
- Early breast development, vaginal bleeding, pubic hair, acne or virilisation depending on hormone.
- Often no true progressive activation of the HPG axis.
- History may reveal household hormone gels, creams or supplements.
|
- Careful medication and household exposure history.
- Oestradiol/testosterone depending on features.
- LH/FSH usually suppressed.
- Consider safeguarding if exposure is unexplained or concerning.
|
- Remove exposure source.
- Educate family about safe storage and skin transfer risk from gels.
- Monitor regression of signs and growth velocity.
- Specialist referral if persistent, severe or unexplained.
|
🦋 Severe primary hypothyroidism
Van Wyk–Grumbach syndrome |
- Paradoxical pubertal features with poor linear growth.
- Delayed bone age rather than advanced bone age.
- Girls: breast development, vaginal bleeding, ovarian cysts.
- Symptoms: fatigue, constipation, weight gain, cold intolerance, goitre.
|
- TSH very high.
- Free T4 low.
- Bone age delayed.
- Thyroid antibodies if autoimmune thyroiditis suspected.
- Pelvic ultrasound may show ovarian cysts in girls.
|
- Levothyroxine replacement.
- Monitor growth, symptoms and thyroid function.
- Pubertal signs usually regress with treatment.
- Endocrine referral if severe, atypical or diagnostic uncertainty.
|
| 🌱 Premature thelarche |
- Isolated breast tissue in young girls.
- No pubic hair, no rapid growth and no progressive puberty.
- Often occurs under age 3 but can occur later.
|
- Growth chart.
- Clinical monitoring.
- Bone age and hormones only if progressive or atypical.
|
- Reassurance if clearly isolated and non-progressive.
- Review growth and pubertal progression.
- Refer if progressive, age close to threshold, or other pubertal signs develop.
|
| 🌿 Premature adrenarche |
- Early pubic/axillary hair, body odour or mild acne.
- No breast development in girls and no testicular enlargement in boys.
- Growth may be slightly increased but usually not rapidly progressive.
|
- Growth chart and pubertal staging.
- Bone age if rapid growth or significant signs.
- DHEAS, testosterone, androstenedione and 17-OHP if virilisation or CAH concern.
|
- Usually reassurance and monitoring if mild and non-progressive.
- Refer if very young, rapidly progressive, virilisation, advanced bone age or abnormal androgens.
|
| 👨👩👧 Familial / constitutional early puberty |
- Early but otherwise normal pubertal sequence.
- Family history of early puberty.
- Growth and bone age may be mildly advanced but progression is not extreme.
|
- Growth chart and parental pubertal history.
- Bone age if uncertain.
- LH/FSH and sex steroids if progressive or below age threshold.
|
- Specialist assessment if below referral thresholds or progressive.
- Reassurance and monitoring if normal variant confirmed.
- Psychological support if early puberty causes distress.
|