Background: Hypothamamic hamartomas (HH) are rare benign tumours of the tuber cinereum revealed by central precocious puberty (CPP) and, in some cases, gelastic seizures and cognitive impairment.
Objective and hypotheses: Evaluation of the treament by GnRH analogues on control of puberty and final height in patients with HH.
Method: We report a series of five cases of CPP secondary to HH (four girls and one boy). Early in infancy (9 months to 5 years), children presented with symptoms of PP, i.e. bilateral breast enlargement (Tanner B2 and B3), vaginal bleeding in one case, and increase in penis and testis size for the boy, accelerated growth velocity and advanced bone age. Estradiol, in girls, and testosterone, in the boy, were significantly elevated (2086 pg/ml and 7 ng/ml). After GnRH infusion, LH secretion rose up to 622 IU/l. Magnetic resonance imaging of the brain revealed a peduncular hamartoma in four cases, and a sessile hamartoma in the fifth case. Hamartomas did not change in size or shape throughout evolution.
Results: In all cases, CPP was treated with GnRH analogues using the monthly or tri-monthly formula. During the 7 years (610 years) of therapy, no side effects were observed. Height velocity was steadied at 6 vs 9 cm/year before treatment. Final height was 162 cm (160165) for girls (n=3) and 180 cm for the boy. Mean time of menarche was 15 months after the termination of treatment, and menses were regular in all cases. LH peak after GnRH infusion test was 10.9, 14.5 and 12.7 IU/l. Spine bone density was measured in one patient at the age of 18 years and was normal (Z-score: −0.8).
Conclusion: CPP due to HH are extremely rare and always aggregated with CPP of other causes in the literature. Our series suggest that the height potential is conserved in this condition, even after years of treatment by GnRH analogues, and that occurrence of regular menstrual cycles is common after discontinuation of aGnRH.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology