PE30.6 | Puberty Disorders — Summary & Reflection

KEY TAKEAWAYS

Puberty Disorders — key take-aways:

• Precocious puberty: onset <8 yr (girls), <9 yr (boys). Central (GnRH-dependent) = elevated LH/FSH, advanced bone age; most often idiopathic in girls, often CNS cause in boys (do MRI). Peripheral (GnRH-independent) = suppressed LH/FSH; causes: CAH, ovarian cyst/tumour, McCune-Albright.
• Delayed puberty: no thelarche by 13 (girls), no testicular enlargement by 14 (boys). CDGP (commonest) = delayed bone age, normal LH/FSH, family history; reassure. Hypogonadotrophic = low LH/FSH. Hypergonadotrophic = high LH/FSH (Turner, Klinefelter).
• SMR (Tanner staging): Stages I–V for breast and pubic hair (girls); genitalia and pubic hair (boys). First sign of puberty: thelarche in girls, testicular enlargement (>4 mL) in boys.
• Investigations: Bone age (wrist X-ray), LH/FSH, sex steroids, GnRH stimulation test, brain MRI, karyotype (if gonadal failure suspected).
• Management: Central PP → GnRH analogue (triptorelin). CDGP → reassurance ± short testosterone course. Gonadal failure → sex hormone replacement.

REFLECT

A 12-year-old girl is brought to you because her mother noticed she is significantly shorter than her classmates, has not started developing breasts, and appears 'younger'. The girl is tearful and says she is bullied at school for looking like a 'little kid'. Investigations reveal FSH of 32 IU/L, LH 18 IU/L, and karyotype 45,X (Turner syndrome). Reflect on how you would communicate this diagnosis to the girl and her mother — balancing honesty about the condition (lifelong oestrogen replacement, likely infertility) with sensitivity and hope. How does a chronic condition with implications for identity and fertility change the nature of your doctor-patient communication at this age?