ESPE Abstracts (2018) 89 RFC9.5

aPaediatric Endocrinology Diabetology Department, Reference Centre for Endocrine Growth and Development Diseases, Robert Debre University Hospital, Paris, France; bRadiology Department, Robert Debre University Hospitale, Paris, France; cLaboratoire de Biochimie, Inserm UMR 1141, Robert Debre University Hospital, Paris, France

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.

Methods: This observational cohort study included all patients identified as having non-isolated CPP in the database of a single academic pediatric care center over a period of 11.5 years. Patients were classified on the basis of MRI findings as having CNS hypothalamic lesions or complex syndromic phenotypes without structural lesions of the hypothalamus.

Results: In total, 63 consecutive children (42 girls and 21 boys) with non-isolated CPP were identified. A broad spectrum of diseases were detected, and the hypothalamic lesions visible on MRI (n=28; 45% of cases) included hamartomas (n=17) either isolated or with an associated syndromic phenotype, optic gliomas (n=8) with or without neurofibromatosis type 1 (NF1), and malformative lesions (n=3) with interhypothalamic adhesions (IHA) (n=2), isolated or associated with syndromic CNS midline abnormalities (optic nerve hypoplasia, ectopic posterior pituitary), or arachnoid cyst (n=1). Patients with non-structural hypothalamic lesions (n=35; 55% of cases) included individuals with narcolepsy (n=9), RASopathies (n=4), encephalopathy or autism spectrum disorders (n=11) and other chromosomal or molecular disorders (n=11), such as known syndromes associated with CPP (William-Beuren, Russell-Silver, Temple, Kabuki), or other abnormalities involving chromosomes 2, 9, 11, 13, 21 and X.

Conclusion: Our findings suggest that a large proportion (55%) of patients with non-isolated CPP may display complex disorders without structural hypothalamic lesions on MRI. Our findings provide no direct evidence concerning the etiology of this association, but have important clinical implications for management, as they highlight the need for appropriate careful management with a view to identifying and treating CPP early in patients with such disorders, which may improve long-term outcomes. Future studies should explore the pathophysiological mechanisms underlying CPP in these disorders.

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