Related Experiment Videos
Hypothalamic hamartoma: comparison of clinical presentation and magnetic resonance images
C Debeneix1, M Bourgeois, C Trivin
1Pediatric Endocrinology, Université René Descartes and Hôpital Necker-Enfants Malades, Assistance Publique-Hopitaux de Paris, France.
Insights
Hypothalamic hamartoma (HH) causes central precocious puberty (CPP) and seizures, depending on its size and location. Small, pedunculated HHs are linked to CPP, while large, sessile ones cause seizures.
Area of Science:
- Endocrinology
- Pediatrics
- Neurology
Background:
- Hypothalamic hamartoma (HH) is a frequent cause of organic central precocious puberty (CPP).
- Understanding the relationship between HH anatomy and clinical presentation is crucial for diagnosis and management.
- This study investigates 19 patients with HH, comparing clinical features and MRI findings.
Purpose of the Study:
- To compare the clinical presentation and MRI characteristics of patients with hypothalamic hamartoma.
- To correlate the anatomical features of HH with specific clinical manifestations such as CPP and seizures.
- To evaluate the hypothalamic-pituitary function and the efficacy of GnRH analog treatment in affected patients.
Main Methods:
- Retrospective analysis of 19 patients with hypothalamic hamartoma (HH).
- Comparison of clinical data (CPP, seizures) and MRI findings (lesion size, location, morphology).
- Assessment of hypothalamic-pituitary function and growth outcomes in patients treated with GnRH analogs.
Main Results:
- Small, pedunculated HHs (6.4 mm) were associated with isolated CPP.
- Large, sessile HHs (18.3 mm) extending into the hypothalamus were linked to neurological symptoms, primarily seizures.
- Normal hypothalamic-pituitary function was observed in all patients; GnRH analog treatment preserved growth potential.
Conclusions:
- The clinical presentation of HH is anatomically dependent: pedunculated lesions correlate with CPP, while sessile lesions correlate with seizures.
- Hypothalamic-pituitary function remains intact, indicating that CPP is not due to gonadotropin deficiency.
- Gonadotropin-releasing hormone (GnRH) analog therapy is effective in preserving growth potential for patients with CPP associated with HH.
Background/Aims:
Hypothalamic hamartoma (HH) is one of the most frequent causes of organic central precocious puberty (CPP). We compared the clinical presentation and the magnetic resonance images (MRI) of 19 patients with HH aged 5.7 +/- 4.1 (SD) years at the first endocrine evaluation. They had isolated CPP (group 1, n = 9), CPP plus gelastic seizures (group 2, n = 5), isolated seizures (group 3, n = 4), and 1 patient was asymptomatic.
Methods/Results:
All patients without neurological symptoms (group 1 and the asymptomatic patient) had pedunculated lesion (diameter 6.4 +/- 3.6 (3-15) mm), suspended from the floor of the third ventricle. All patients with neurological symptoms (groups 2 and 3) had sessile lesion (diameter 18.3 +/- 9.6 (10-38) mm, p = 0.0005 compared to the others), located in the interpeduncular cistern with extension to the hypothalamus. Seven patients were overweight. The growth hormone peak, free thyroxine, cortisol and prolactin concentrations, and the concomitant plasma and urinary osmolalities were normal in all the cases evaluated. The mean predicted or adult heights of 10 patients treated 5.2 +/- 3.3 years for CPP with gonadotropin hormone releasing hormone (GnRH) analog were -0.3 +/- 1.7 SD, similar to their target height -0.1 +/- 0.9 SD.
Conclusion:
The clinical presentation of HH depends on its anatomy: small and pedunculated HH are associated with CPP, while large and sessile HH are associated with seizures. The hypothalamic-pituitary function in these cases is normal, which suggests that the absence of CPP is not due to gonadotropin deficiency. GnRH analog treatment preserves the growth potential in those with CPP.