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Published on: April 12, 2024
Central precocious puberty due to hypothalamic hamartoma in a 7-month-old infant girl
I H Rousso1, M Kourti, D Papandreou
12nd Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece. roussoi@med.auth.gr
Insights
Hypothalamic hamartomas (HH) can cause central precocious puberty (CPP). Early diagnosis and treatment with gonadotropin-releasing hormone (GnRH) analogues are crucial for affected infants.
Area of Science:
- Pediatric Endocrinology
- Neurology
- Genetics
Background:
- Hypothalamic hamartomas (HH) are rare congenital brain malformations.
- HH are associated with a triad of gelastic epilepsy, central precocious puberty (CPP), and developmental delay.
- Timely diagnosis of CPP is essential due to its significant impact on affected children.
Observation:
- A 7-month-old infant girl presented with symptoms of CPP.
- The infant was diagnosed with hypothalamic hamartoma (HH).
Findings:
- The infant with CPP and HH received successful treatment with a depot gonadotropin-releasing hormone (GnRH) analogue.
- This case highlights the efficacy of GnRH analogue therapy in infants.
Implications:
- Early intervention for CPP in infants with HH can prevent long-term complications.
- This case underscores the importance of recognizing and managing HH-associated CPP.
- GnRH analogue therapy offers a viable treatment option for this rare condition.
Abstract:
Hypothalamic hamartomas (HH) are rare congenital lesions of the tuber cinereum presenting with the classic triad of gelastic epilepsy, central precocious puberty (CPP) and developmental delay. In light of the important and diverse consequences of precocious puberty for affected children and their families, a correct diagnosis without delay is imperative. We present here a rare case of a 7-month-old infant girl with CPP and HH who was successfully treated with depot gonadotropin-releasing hormone (GnRH) analogue is presented.
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