OG23.2 | Delayed Puberty — Summary & Reflection

KEY TAKEAWAYS

Delayed puberty in girls: defined as no breast development by 13 yr, no menarche by 15 yr, or >5 yr from thelarche to menarche. Classified by FSH/LH: (1) Hypogonadotropic (low FSH/LH) — CDGP (most common; familial; delayed bone age; resolves spontaneously), Kallmann syndrome (anosmia + absent GnRH; treat with pulsatile GnRH for fertility), functional suppression (anorexia, athlete triad — reverse the cause); (2) Hypergonadotropic (high FSH/LH) — Turner syndrome 45,X (most common primary amenorrhoea cause; oestrogen + GH replacement; cardiac surveillance mandatory), POI, Swyer syndrome (gonadectomy for Y chromosome); (3) Eugonadism + outflow obstruction (normal FSH/LH) — imperforate hymen (hymenectomy), MRKH (absent uterus; dilators/neovagina; surrogate fertility), AIS 46,XY (post-pubertal gonadectomy + HRT). Investigation pathway: FSH/LH first → high = karyotype; low = MRI brain + smell test; normal = pelvic ultrasound + karyotype + testosterone.

REFLECT

You are seeing a 14-year-old girl and her mother in clinic. The girl has been investigated and the results confirm Turner syndrome. You must explain the diagnosis, its implications for puberty, adult height, cardiac health, and fertility. How do you approach this conversation? What information do you prioritise, and what do you defer to later consultations? Reflect on the emotional dimension of diagnosing a chromosomal condition in an adolescent — how does your language and framing affect how the family processes this news?