Researchers at Universite Paris Descartes and other centers in Paris, France performed a retrospective, study of 176 patients (93 boys) aged 6 years (range 0.2-18 years) with hypothalamic-pituitary lesions to determine whether the time to diagnosis could be shortened by analyses of clinical and endocrine presenting symptoms. The lesions were craniopharyngioma in 56, optic pathway glioma (n=54), supracellar arachnoid cyst (25), hamartoma (22), germ cell tumor (12), and hypothalamic-pituitary astrocytoma (7). The most common presenting symptoms were neurologic (50%) and/or visual complaints (38%). Endocrine symptoms occurred alone in 28%. Precocious puberty triggered the diagnosis in 19% of 131 prepubertal patients, and occurred earlier in patients with hamartoma than those with optic glioma (P<0.02). Isolated diabetes insipidus led to diagnosis of all germ cell tumors. In 122 patients presenting with neuro-ophthalmic symptoms, the mean interval from symptom to diagnosis was 0.5 year, although 66% of patients had abnormal body mass index or growth velocity, which preceded the presenting symptom onset by 1.9 years (P<0.0001) and 1.4 years (P<0.0001), respectively. Among this subgroup of patients with neuro-ophthalmic presenting symptoms, endocrine symptoms were present before onset of presenting symptoms in two-thirds of cases. Obesity occurred prior to diagnosis in 41 (38%) of 108 patients evaluated for BMI. Abnormal BMI or BMI progression was observed in 67 (62%) patients at a median time of 2.5 years prior to diagnosis. The French guidelines for the management of obese children state that endocrine or brain tumor should be suspected in case of poor growth velocity with obesity, and the AAP recommendations state that an exogenous cause of obesity (e.g. tumor) can lead to poor linear growth. In the cohort studied, 71% maintained normal growth velocity after onset of the presenting symptom and up to diagnosis of tumor. The guidelines failed to identify 61% to 85% of obese patients with a hypothalamic-pituitary lesion. [1]

COMMENT. Endocrine disorders precede the onset of neuro-ophthalmic presenting symptoms in two-thirds of patients. Greater attention and identification of changes in weight, height, BMI and endocrine symptoms in children with hypothalamic-pituitary lesions should lead to earlier diagnosis and treatment. [2]

In a study of endocrine and growth features in 32 children with craniopharyngioma, neuro-ophthalmic presenting symptoms (headache, vomiting, visual impairment) were most common. Some patients presented with signs or symptoms of endocrine disorder (polyuria, polydipsia, growth failure, precocious puberty, and obesity). The growth pattern was heterogeneous. After tumor treatment, growth hormone deficiency required hormonal therapy, but 8 grew normally without growth hormone. [3]