Central precocious puberty in a toddler with hypothalamic hamartoma

Hypothalamic hamartoma (HH) is a rare condition that causes epilepsy and central precocious puberty (CPP) at an early age. In this report, we describe a child with CPP secondary to HH and discuss the current literature.

A 26-month-old girl was brought to our hospital for evaluation of breast enlargement. Her parents were first-degree relatives. Her breast development was categorized as Tanner stage 3, and her bone age was 7 years/4 months. Laboratory investigations were consistent with CPP. Brain magnetic resonance imaging (MRI) revealed a smooth, spherical lesion in the hypothalamus, located in the tuber cinereum and measuring 11 × 9 × 10 mm. The lesion was identified as a HH. The patient was started on gonadotropin-releasing hormone analogue therapy, specifically 200 μg/kg/month of leuprolide acetate (3.75 mg depot) administered intramuscularly every 28 days. During the 2-year follow-up, her breast development remained at Tanner stage 3, and she did not develop axillary or pubic hair. Her bone age was 7 years/6 months (chronological age; 4 years/2 months). 2-year follow-up MRI showed no change in the size or contours of the HH compared with the initial diagnosis. No side effects from the medical treatment were observed during the follow-up period.

In patients under the age of 4 years showing signs of CPP, HH should be considered as diagnosis. All patients receiving medical treatment should be closely monitored.