Precocious puberty
Key points
Definition: Appearance of secondary sexual characteristics in girls <8 years and boys <9 years
Central - gonadotropin-dependent - early activation of the hypothalamic pituitary gonadal axis
CNS tumours (usually hypothalamic hamartoma), trauma
Familial
Neurofibromatosis, Tuberous sclerosis
Peripheral (pseudopuberty) - gonadotropin-independent - excess production of sex hormones either from the gonads, the adrenal glands, ectopic or exogenous sources
Some types of congenital adrenal hyperplasia
McCune-Albright syndrome (precocious puberty, cafe-au-lait spots, polyostostic fibrous dysplasia)
Gonadal, adrenal tumours
Exongenous hormones
5% of patients with precocious puberty have tumour
Standard scenario
Patient with concerns of precocious puberty
Concern is true precocious puberty vs other causes e.g. tumour
Check family history, medications
Examine for abdominal and gonadal tumours
Examine thyroid for size and nodules
Check Lutenising hormone and follicular stimulating hormone, thyroid function tests
Tumour markers and imaging if concerns
Refer to endocrinology to check bone age and other investigations
Special scenario - Benign premature thelarche
Females - usually < 2 years but can be <8 years
Different from precocious puberty as it is isolated thelarche with no other secondary characteristics or growth spurt, and non-progressive
Ensure no family history of endocrine or tumour disorders
Examine breast tissue, lymph nodes and abdomen for tumours
If unsure refer to endocrinology - investigations:
USS for uterine dimensions (should be normal)
LH (should be low), Oestrogen (should be normal or high)
Will be stable or resolve
Special scenario - Mini puberty of infancy
Increase in GnRH in neonatal period due to loss of negative feedback from placental steroids
Development of secondary sex characteristics
Lasts 6 months in females, 3 months in males
Increase in penile + breast growth, acne, pubic hair increases then recedes
If unsure, refer to endocrinology
References
Kota AS, Ejaz S. Precocious Puberty. [Updated 2023 Jul 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK544313/
Leung AKC, Lam JM, Hon KL. Premature thelarche: An Updated Review. Curr Pediatr Rev. 2023 Jul 26. doi: 10.2174/1573396320666230726110658. Epub ahead of print. PMID: 37496240.
Lanciotti L, Cofini M, Leonardi A, Penta L, Esposito S. Up-To-Date Review About Minipuberty and Overview on Hypothalamic-Pituitary-Gonadal Axis Activation in Fetal and Neonatal Life. Front Endocrinol (Lausanne). 2018 Jul 23;9:410. doi: 10.3389/fendo.2018.00410. PMID: 30093882; PMCID: PMC6070773.
Renault CH, Aksglaede L, Wøjdemann D, Hansen AB, Jensen RB, Juul A. Minipuberty of human infancy - A window of opportunity to evaluate hypogonadism and differences of sex development? Ann Pediatr Endocrinol Metab. 2020 Jun;25(2):84-91. doi: 10.6065/apem.2040094.047. Epub 2020 Jun 30. PMID: 32615687; PMCID: PMC7336259.