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A rare case of central precocious puberty due to hypothalamic hamartoma diagnosed in utero
Shrikrishna V Acharya1, Raju A Gopal, Padma S Menon
1Department of Endocrinology, King Edward Memorial Hospital, Mumbai, India.
Insights
This study reports the youngest infant diagnosed in utero with central precocious puberty caused by hypothalamic hamartoma. Early treatment with leuprolide acetate stabilized growth, highlighting the importance of prenatal diagnosis and intervention.
Area of Science:
- Pediatric Endocrinology
- Neuro-oncology
- Fetal Medicine
Background:
- Central precocious puberty (CPP) involves early onset of puberty due to central nervous system causes.
- Hypothalamic hamartomas are rare, benign tumors associated with CPP.
- Prenatal diagnosis of conditions causing CPP is uncommon.
Observation:
- A 3-month-old male infant presented with rapid growth and weight gain since birth.
- Prenatal imaging at 9 months gestation suggested a fetal brain cystic lesion.
- The infant was diagnosed with hypothalamic hamartoma and CPP.
Findings:
- The patient exhibited accelerated growth and pubertal development.
- Treatment with leuprolide acetate led to growth stabilization.
- This case represents the youngest patient diagnosed prenatally and treated for CPP secondary to hypothalamic hamartoma.
Implications:
- Prenatal diagnosis of hypothalamic hamartoma can enable early intervention for CPP.
- Timely treatment with GnRH agonists like leuprolide acetate is effective in managing CPP.
- This case underscores the significance of fetal imaging in identifying potential pediatric endocrine disorders.
Objective:
To report a rare case of central precocious puberty attributable to hypothalamic hamartoma that was diagnosed in utero.
Methods:
We present the clinical, laboratory, and imaging data pertaining to our case and discuss the diagnostic features and recommended treatment of central precocious puberty in patients with hypothalamic hamartoma.
Results:
A 3-month-old male child had had excessively rapid growth velocity and weight gain since birth. On investigation, the patient was diagnosed as having hypothalamic hamartoma with central precocious puberty. On inquiry, his mother described a history of prenatal ultrasonography and fetal magnetic resonance imaging suggesting the presence of a cystic lesion in his brain at 9 months of gestation. Because of continued rapid growth and acceleration of puberty during a 4-month observation period, we decided to treat the patient with leuprolide acetate. The patient responded well to treatment, with stabilization of growth.
Conclusion:
To the best of our knowledge, this patient is the youngest in the medical literature diagnosed to have central precocious puberty and also to receive treatment with leuprolide acetate.
