An 11-month-old girl with central precocious puberty caused by hypothalamic hamartoma

Area of Science:

• Pediatric Endocrinology
• Neurology
• Radiology

Background:

• Central precocious puberty (CPP) results from premature hypothalamic-gonadal axis activation.
• Organic lesions, such as hypothalamic hamartoma (HH), are common causes of CPP, especially in young children.
• Early diagnosis and treatment are crucial for managing CPP and preventing long-term complications.

Purpose of the Study:

• To report a case of central precocious puberty (CPP) in an infant caused by hypothalamic hamartoma (HH).
• To describe the successful treatment and long-term follow-up of this rare condition.
• To emphasize the importance of identifying organic causes in pediatric CPP.

Main Methods:

• A case report of an 11-month-old female infant with precocious puberty.
• Diagnosis of CPP confirmed by clinical presentation and hormonal evaluation.
• Magnetic resonance imaging (MRI) identified hypothalamic hamartoma (HH).
• Treatment with gonadotropin-releasing hormone (GnRH) agonist initiated.

Main Results:

• The infant presented with vaginal bleeding and rapid development of secondary sexual characteristics at 6 months of age.
• MRI revealed hypothalamic hamartoma (HH) as the cause of CPP.
• Treatment with GnRH agonist led to regression of breast development within 6 months.
• Long-term follow-up (4 years) showed stable findings, with no tumor growth or recurrence of sexual characteristics.

Conclusions:

• Hypothalamic hamartoma (HH) is a significant organic cause of central precocious puberty (CPP) in infants.
• Gonadotropin-releasing hormone (GnRH) agonist therapy is effective for treating CPP associated with HH, even in very young patients.
• This case underscores the importance of early diagnosis and sustained treatment for optimal outcomes in pediatric CPP.