Endocrine Abstracts

Background: Hypothalamic hamartomas (HH) are congenital, benign tumours consisting of disorganised neuronal cells within the hypothalamus. They usually present with precocious puberty, seizures, behavioural abnormalities, either in isolation or combined.

Aims: To look at the endocrine outcomes of patients with HH.

Methods: A retrospective casenote review of all patients diagnosed with HH over a 20-year period within a single endocrine centre.

Results: In total, data on 13 patients was available (9F:4M). Mean age of diagnosis was 3.8 years (range 0.08–9.5). Nine patients (7F:2M) had central precocious puberty (CPP) and two additionally had GH deficiency (GHD) at presentation. Three patients had surgery (for intractable seizures) and subsequently developed diabetes insipidus (transient), hypothalamic obesity, and behavioural changes. One child was found to have a GLI3 mutation associated with Pallister–Hall syndrome.

Treatment for CPP was with regular GnRH analogue treatment, titrated to clinical symptoms. Treatment halted pubertal progression in all cases and reduced bone age advancement in 6/13 patients. Final height data were available on seven patients – mean final height SDS 0.02 (range −1.52 to +2.06). Most patients (5/7) achieved height within the expected mid-parental target range. 6/7 were overweight (mean BMI +2.36; range 1.39–3.01). For the seven patients who completed puberty, one was severely obese with 3.01 S.D., five were overweight with BMI SDS >2 and one had a normal BMI SDS at final height.

Menses occurred in all female patients (n=3) once GnRH therapy was withdrawn at an appropriate age. No information was available about fertility.

Conclusion: Most studies on HH have focussed on neurological/behavioural outcomes or endocrine presentation. Here, we show that final height in the majority of patients is not adversely affected compared to the general population and that the main endocrine abnormalities at diagnosis are CPP and GHD with excessive weight gain being a long term problem.