Pediatric and Adolescent Gynecology and Congenital Anomalies
Approach
Distinguish pubertal variants from pathology. Precocious puberty is before age 8 (girls) or 9 (boys); delayed puberty is no breast development by 13 or no menarche by 15–16. Tanner staging guides assessment.
Primary amenorrhoea
Workup includes examination, karyotype, and imaging. Key categories: Müllerian agenesis (MRKH)-normal ovaries, absent uterus/upper vagina, normal 46,XX; androgen insensitivity syndrome-46,XY, testes, absent uterus, breast development but sparse pubic hair; Turner syndrome-45,X, short stature, streak gonads; imperforate hymen and transverse vaginal septum-obstructed outflow with cyclic pain.
Congenital anomalies
Müllerian anomalies include septate (most common), bicornuate, unicornuate, didelphic, and arcuate uteri. Septate uterus is most associated with recurrent loss.
Traps
- Missing that an adolescent with cyclic pelvic pain and amenorrhoea may have an obstructed outflow tract.
- Confusing MRKH (ovaries present, no uterus) with AIS (testes, no uterus).
- Forgetting that Turner syndrome requires cardiac and renal screening.
- Overlooking that a normal karyotype does not exclude a Müllerian anomaly.
Worked example
A 15-year-old with primary amenorrhoea and normal breast development: measure FSH. Low/normal FSH with a normal uterus suggests outflow obstruction or MRKH; high FSH suggests gonadal dysgenesis. Karyotype and pelvic imaging distinguish.