Synopsis
Recognise abnormal female pubertal timing, distinguish central from peripheral and gonadal from central failure, investigate primary amenorrhoea and anatomy, and coordinate age-appropriate endocrine treatment.
- In girls, breast development before age 8 suggests precocious puberty; absent breast development by 13, no menarche by 15 or no menarche more than three years after thelarche requires assessment.
- True central precocious puberty follows early hypothalamic-pituitary-gonadal activation with progressive breasts, growth acceleration and advanced bone age; isolated premature thelarche or adrenarche may not progress.
- Peripheral puberty produces sex steroids independently of gonadotrophin activation and may be discordant, from ovarian or adrenal disease, severe hypothyroidism, McCune-Albright syndrome or exogenous hormones.
- Plot serial height and growth velocity, document Tanner stage, family timing, nutrition, chronic disease, exercise, neurological symptoms and exposure to oestrogen or androgen products.
- Bone age, basal LH and FSH with oestradiol, thyroid tests and pelvic ultrasound form the initial pattern; a specialist GnRH or GnRH-agonist stimulation test confirms uncertain central activation.
- Delayed puberty with high FSH and low oestradiol indicates primary gonadal failure; low or normal gonadotrophins suggest constitutional delay, energy deficiency, chronic disease or hypothalamic-pituitary pathology.
- Normal breast development with an absent uterus redirects primary-amenorrhoea assessment toward Müllerian agenesis or complete androgen insensitivity, requiring specialist anatomy, testosterone and genetic evaluation.
- Progressive central precocious puberty can be paused with a long-acting GnRH agonist; permanent hypogonadism is treated with low-dose oestradiol increased gradually over about two to three years, adding progestogen later when a uterus is present.
Key red flags
Pubertal progression with headache, morning vomiting, visual change, seizures, focal neurological signs, polyuria or growth failure requires urgent central nervous system assessment.
Severe cyclical pelvic or abdominal pain, urinary retention or a pelvic mass with primary amenorrhoea suggests retained menstrual blood from outflow obstruction.
Rapid virilisation, clitoromegaly, voice deepening or markedly raised androgens suggests adrenal or gonadal disease rather than ordinary adrenarche.
Pregnancy, genital injury, sexually transmitted infection or sexualised behaviour inconsistent with development requires sensitive safeguarding assessment and statutory escalation where indicated.
Short stature with hypertension, cardiac findings, webbed neck or absent breast development raises Turner syndrome and needs prompt cardiovascular as well as endocrine assessment.
Investigation priorities
Determine whether pubertal development is progressive and how sex-steroid exposure has altered skeletal maturation.
Management branches
Breast, pubic hair or bleeding occurs before the expected age.
- Plot serial growth, stage breasts and pubic hair, ask about neurological symptoms and exogenous hormones and examine for café-au-lait lesions or virilisation.
- Obtain bone age, basal gonadotrophins with oestradiol and pelvic ultrasound, adding thyroid, adrenal or hCG testing from the specific pattern.
- Use specialist stimulation testing and risk-based MRI to distinguish central activation, isolated thelarche or adrenarche and peripheral hormone production.