ESPE Abstracts (2019) 92 P1-252

Brain Malformations and Sellar Spine as Possible Causes of Central Precocious Puberty in a Large Monocentric Study

Daniela Fava1,2, Andrea Calandrino1,2, Giovanni Morana3, Roberto Gastaldi1, Anna Elsa Maria Allegri1, Flavia Napoli1, Barbara Roviglione1,2, Natascia Di Iorgi1,2, Mohamad Maghnie1,2


1Pediatric Department, IRCCS Istituto Giannina Gaslini, Genoa, Italy. 2University of Genoa, Genoa, Italy. 3Pediatric Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy


Background: Central precocious puberty (CPP) is defined as the secondary sexual characteristics onset before 8 years of age in females and before 9 in males, due to premature activation of the hypothalamic-pituitary-gonadal axis. The underlying cause remains idiopathic in the great majority; based on the 2009 Consensus, 2% to 7% of girls who have onset of CPP between the ages of 6 and 8 years have unsuspected pathology and only 1% have a tumor such as a glioma or astrocytoma. Aim of our retrospective study was to assess the anthropometric, biochemical and MRI characteristics at presentation of a large monocentric cohort of children with CPP.

Methods: Among 160 patients presenting with CPP between November 2009 - April 2019, we analyzed retrospectively the preliminary data of 120 children, including anthropometric measures at the start of GnRH agonist therapy, FSH and LH levels before and after a GnRH test and brain MRI.

Results: All patients were evaluated (n=16 males-M, 13.3%, n=204 females-F) at a mean age of 7,8±1,6 yrs. Thirty-two patients (26.6%; n=25, 24% F and n=7, 43.8% M) displayed neuroimaging abnormalities: n=17 (14.1%; n=5M, n=12F) brain malformations (BM) such as corpus callosus hypoplasia, Rathke Cist, Arnold Chiari type 1 etc; n=6 (5%; n=1M, n=5F) Hamartomas (HA); n=4F (3.3%) brain tumors (BT) (n=2 gliomas, n=1 astrocytoma, n=1 Langerhans cell Histiocytosis). In 6 patients (5%; 1M, 5F) a sellar spine (SSP) was detected. MRI was normal (iPP) in 88 subjects (73.3%; n=9, 56.2% M and 79, 75.9% F).

At diagnosis F and M did not differ for age at treatment, height SDS, BMI SDS, puberal stage, baseline FSH and LH and peak FSH and LH after GnRH testing. iPP, BM, HA, BT and SPP patients did not differ for any anthropometric measures at the start of GnRH agonist therapy, FSH and LH levels before and after a GnRH test in the entire cohort. MRI abnormalities increased up to 34.6, 32.3 and 32.5% of patients evaluated before 5 yrs, 6 yrs or 7 yrs of age, respectively.

Conclusions: brain malformations and sellar spine represent other potential causes of CPP, either in females and in males; in particular, sellar spine, a bony spur protruding from the central portion of the dorsum sellae, may be a not negligible potential cause of CPP due to deformation of the growing pituitary gland.