medwireNews: More than half of girls with central precocious puberty (CPP) have abnormal findings on magnetic resonance imaging (MRI) of the brain, report researchers.
The study by Mohamad Maghnie (University of Genoa, Italy) and colleagues involved 112 girls, treated in a single specialist centre, who had progressive CPP with onset before the age of 8 years and evaluable MRI.
Just 47 (42.0%) of these girls had completely normal MRI findings, and 46.8% of those with normal findings had a positive family history for early puberty while five had pre-existing conditions including Wilms tumour, Williams syndrome, and rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD syndrome).
A further 54 girls had hypothalamic–pituitary anomalies (HPA) or extra HPA, including 22 with pineal gland cysts, five with inter-hypothalamic adhesions, five with pars intermedia/Rathke cleft cysts, four with nonspecific brain T2 hyperintensities and three with sellar spines, among other findings.
Pre-existing conditions in this group included ROHHAD syndrome in two, and conditions such as narcolepsy and cataplexy, epilepsy, ovarian teratoma and Edwards syndrome, each in one girl.
The researchers stress that 85% of the children with HPA/extra HPA had findings that were “mainly incidental and questionably related to CPP”, although they note that anomalies such as sellar spine and inter-hypothalamic adhesion could have directly influenced puberty progression in these girls.
Eleven girls had brain tumours or tumour-like lesions, comprising six with hypothalamic hamartoma, three with hypothalamic-optochiasmatic glioma, one with non-functioning pituitary macroadenoma and one with craniopharyngioma.
“The association between hypothalamic hamartoma and CPP is well known and has been hypothesized as a possible causal mechanism because of the interference with the regulatory systems of the hypothalamus-pituitary-gonads axis, both excitatory and inhibitory”, say Maghnie and team.
There were only a few clinical and endocrine differences between the groups. Maternal age at menarche tended to be higher in girls with brain tumours/tumour-like lesions than in the other groups, and baseline and peak levels of follicle-stimulating hormone and luteinising hormone were also higher in this group. The endocrine differences were mostly restricted to girls with puberty onset before the age of 6 years.
“[O]ur study showed that MRI provides valuable information in girls with precocious puberty by demonstrating that fewer than half have a normal brain MRI”, write the researchers in The Journal of Clinical Endocrinology & Metabolism.
They add: “Whether all or just some selected girls require a brain MRI examination remains debatable; the identification of a number of patients with [central nervous system] lesions in our cohort indicates the difficulty in adopting stringent criteria for neuroimaging examination regardless of clinical, biochemical markers, or age at diagnosis.”
The team concludes: “Close clinical and personalized follow-up for detecting neurological signs is mandatory in girls with rapidly progressive central precocious puberty to avoid late diagnosis of brain tumors/lesions and allow early intervention.”
By Eleanor McDermid
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