To read the full abstract: Eur J Endocrinol. 2018 Dec 1;179(6):373380.
This observational cohort study including children followed for central precocious puberty (CPP) in a single academic centre in Paris, France, identifies a large proportion of patients with complex disorders without structural hypothalamic lesions on MRI.
Patients with CPP undergo an etiological diagnostic workup, which typically includes neuroimaging in order to identify the possible underlying condition (see comment 7.12). Based on their clinical experience, the authors hypothesized a high prevalence of associated disorders among patients with non-isolated CPP. They identified 63 children (42 girls and 21 boys) with non-isolated CPP, representing 16% of their whole clinic population with CPP. In 45% of those patients, hypothalamic lesions were visible on MRI, including hamartomas, optic gliomas, malformations with inter-hypothalamic adhesions or associated with syndromic midline abnormalities or arachnoid cysts. The remaining 55% had no structural hypothalamic lesions, but also had narcolepsy, RASopathy, encephalopathy, autism spectrum disorder with or without chromosomal abnormality, or other complex syndromic disorder. Average age at puberty onset was 4.95 years in patients with hypothalamic lesions and 7.3 years in patients without. Future studies should explore the pathophysiological mechanisms underlying CPP in these disorders.
This study suggests that hypothalamic disturbances not visible on MRI may be associated with several complex disorders in patients with non-isolated and potentially non-idiopathic CPP.
Reference: 1. Carel JC, Leger J. 2008 Clinical practice. Precocious puberty. New England Journal of Medicine 358: 23662377.