ESPE Abstracts (2023) 97 P1-542

ESPE2023 Poster Category 1 Pituitary, Neuroendocrinology and Puberty (73 abstracts)

Comparation between syndromic and non-syndromic central precocious puberty: a 10-year experience

Valentina Assirelli 1 , Rita Ortolano 1 , Federico Baronio 1 , Valeria Di Natale 1 , Erika Cantarelli 1,2 , Luca Bernardini 1,2 & Alessandra Cassio 1,3

1Department Hospital of Woman and Child, Pediatric Unit, Center for Rare Endocrine Conditions (Endo-ERN), IRCCS - S. Orsola-Malpighi University Hospital, Bologna, Italy. 2Specialty School of Pediatrics, Alma Mater Studiorum, Bologna, Italy. 3University of Bologna, Bologna, Italy

Introduction: Central Precocious Puberty (CPP) has recently been described in patients with isolated or syndromic neurodevelopmental disorders, with greater attention from the scientific community. We carried out this study to compare the main aspects of non-isolated and isolated forms of CPP.

Methods: We conducted a retrospective monocentric study, collecting all treated cases of CPP from 1st January 2013 to 31 December 2022. We distinguished two groups: syndromic CPP (sCPP), composed of patients affected by genetic syndromes or neurodevelopmental disorders, and isolated CPP (iCPP), composed of patients not affected from underlying chronic diseases. Of each patient we evaluated anamnestic, auxological, hormonal and instrumental data at diagnosis and during follow up.

Results: 289 patients were included in the study: 233 in the iCPP group and 56 in the sCPP group. The proportion of males was significantly higher in sCPP (21.4%) than in iCPP (3.9%) group (P<0.05). The cumulative incidence showed an increase in the sCPP proportion from 16.9% in the 2013-2017 period to 22.3% in the 2018-2022 period. The most frequent disturbances found in the sCPP group were: neurocognitive developmental delay (24/56), Neurofibromatosis type 1 (7/56), autism spectrum disorder (5/56 cases), epilepsy (5/56 cases) and Narcolepsy type 1 (4/56). No statistically significant differences were found between the two groups regarding auxological, hormonal and ultrasound data at diagnosis and during follow-up. Brain-saddle MRI was performed in 102 patients from the iCPP Group and 35 from the sCPP Group. The neuroradiological outcome was significantly abnormal in the sCPP compared to the iCPP group (22.8% vs 8.8%) (P=0,0004). Comparing the MRI outcome, we differentiated hypothalamic and non-hypothalamic lesions. While the proportion of hypothalamic lesions was comparable between the two groups (3.92% in the iCPP and 5.71% in the sCPP), the proportion of non-hypothalamic ones was significantly higher in the sCPP forms (17.1% of the sCPP group vs 4.9% of the nsCPP)(p.0.011).

Conclusions: The results of this study confirm an higher frequency of males in the non-isolated forms of CPP. In this group, however, it is interesting to underline that the proportion of hypothalamic lesions is the same compared to isolated CPP, while non-specific non-hypothalamic lesions are mostly found. Moreover, the characteristics of CPP in these two groups seems comparable. The results of this study and the role of non-hypothalamic lesions in the pathogenesis of CPP will be further investigated with prospective studies on a larger sample of the population.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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