EpistemisPrecocious puberty
Specialty: Endocrine and metabolic.
Why it occurs
- Idiopathic central precocious puberty (premature and unexplained activation of the gonadotropin-releasing hormone (GnRH) pulse generator in the hypothalamus)
- Tumors or hamartomas of the central nervous system (space-occupying lesions, astrocytomas or gangliogliomas that interrupt the inhibitory pathways on the hypothalamic-pituitary-gonadal axis)
- McCune-Albright syndrome (peripheral precocious puberty caused by an activating somatic mutation in the GNAS gene that encodes the alpha subunit of the stimulatory G protein, causing a constitutive activation of gonadal receptors)
- Non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (peripheral hyperandrogenism with accelerated bone maturation that can trigger secondary central puberty)
- Testicular Leydig cell tumors or ovarian granulosa cell tumors (massive autonomous production of testosterone or estradiol)
Initial workup
Basal serum determination of LH and FSH using ultrasensitive immunoassays; estradiol in girls and total testosterone in boys; dynamic stimulation test with GnRH analogues (an LH surge greater than 5 IU/L at 30-60 minutes after injection confirms the central origin dependent on GnRH); simple x-ray of the left hand and wrist to evaluate bone maturation; high-resolution pelvic ultrasound in girls to measure uterine and ovarian volume; and contrast-enhanced brain MRI focused on the hypothalamus and pituitary gland.
red flags
Appearance of secondary sexual characteristics (thelarche or pubic hair) before the age of 8 in girls or testicular enlargement (volume >4 ml) before the age of 9 in boys, associated with progressive holocranial headache, explosive vomiting, bilateral papilledema, campimetric visual alterations, or a marked acceleration of bone age that severely compromises the prognosis of final target height.
Standard management
- Leuprolide acetate — depot GnRH analogue, first choice for central precocious puberty; Its continuous administration saturates and desensitizes the pituitary GnRH receptors, stopping the secretion of LH and FSH and stopping pubertal development; administered by deep intramuscular route every 4, 12 or 24 weeks
- Triptorelin — extended-release GnRH analogue
- Letrozole — third generation aromatase inhibitor, used in peripheral precocious puberty in McCune-Albright syndrome to prevent estrogen synthesis
- Ketoconazole — in male testotoxicosis to block the enzymes of testicular steroidogenesis
Educational guidance for study. It is NOT a prescription recommendation. The actual choice depends on the cause, the patient, and current guidelines.
- Area
- Endocrine and metabolic
- Listed causes
- 5
- Treatment options
- 4