From the Guidelines
The approach to precocious puberty involves prompt evaluation, diagnosis, and treatment with GnRH analogs to preserve final adult height, delay menarche, and optimize development of secondary sex characteristics, as supported by the most recent evidence 1. The initial assessment should include a detailed history, physical examination, and appropriate laboratory tests (LH, FSH, estradiol/testosterone) along with bone age determination.
- For central precocious puberty (CPP), GnRH agonists like leuprolide acetate or histrelin implant are the mainstay treatments, effectively suppressing the hypothalamic-pituitary-gonadal axis, halting pubertal progression and preserving adult height potential 1.
- Treatment typically continues until the normal age of puberty (around 11 years for girls and 12 years for boys).
- For peripheral precocious puberty, therapy targets the underlying cause, such as removing an estrogen-secreting tumor or using ketoconazole for certain adrenal disorders.
- Regular monitoring every 3-6 months is essential to assess treatment efficacy through physical examination, growth velocity, bone age advancement, and hormone levels.
- Psychological support should be provided throughout treatment as children may struggle with looking different from peers.
- Imaging should always follow hormonal studies that suggest a central origin of precocious puberty, with MRI screening recommended for girls <6 and boys <9 years old at symptom onset 1.
- Treatment decisions should consider the child's age, rate of pubertal progression, psychological impact, and predicted adult height, with earlier intervention generally yielding better height outcomes in true precocious puberty.
From the Research
Definition and Classification of Precocious Puberty
- Precocious puberty is defined as the onset of pubertal development before the age of 8 years in girls or 9 years in boys 2, 3, 4.
- There are two main types of precocious puberty: central precocious puberty (CPP) and peripheral precocious puberty (PPP) 2, 3, 5.
- CPP results from premature activation of the hypothalamic-pituitary-gonadal axis, while PPP results from extrapituitary gonadotropin secretion or secretion of sex steroids independent of pituitary gonadotropins 2, 3.
Diagnosis of Precocious Puberty
- A full, detailed history and physical examination should be taken to diagnose precocious puberty 3, 4.
- Several investigations should be conducted, including the estimation of serum gonadotropins and sex steroids, radiographic workup, and thyroid function tests 3, 4.
- Brain magnetic resonance imaging should be performed in girls younger than six years, all boys with precocious puberty, and children with neurologic symptoms 4.
Treatment of Precocious Puberty
- Long-acting GnRH agonists are the norm of care for CPP management, while in PPP, the goal of management is to suppress adrenal androgen secretion by glucocorticoids 2, 3.
- Anastrozole and letrozole, third-generation aromatase inhibitors, are more potent for McCune-Albright syndrome 3.
- GnRH agonist treatment leads to an increase in predicted final height, but continuing studies are needed to follow growth patterns until adult stature is achieved 2.
Physiopathological Mechanisms and Recent Advances
- The physiopathological mechanism of precocious puberty is still unknown, but it is influenced by environmental, endocrine, and genetic factors 5.
- Recent advances in understanding the aetiology of CPP have expanded, particularly in the context of molecular interactions and regulatory abnormalities at the hypothalamic level 6.
- Genetic advances have also had important repercussions beyond consideration of puberty alone, including the identification of mutations in MKRN3 and DLK1 in familial and sporadic forms of CPP 6.