ESPE Abstracts (2021) 94 P2-381

ESPE2021 ePoster Category 2 Pituitary, neuroendocrinology and puberty (48 abstracts)

Characterization of puberty development in a large cohort of patients with Noonan syndrome with molecular diagnosis

Raíssa Rezende 1 , Alexander Jorge 1 , Renata Noronha 2 , Ana Keselman 3 , Nathalia Andrade 1 , Naiara Dantas 1 , Debora Bertola 4 & Alexsandra Malaquias 2

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1Universidade de São Paulo, São Paulo, Brazil; 2Faculdade de Ciências Médicas da Santa Casa, São Paulo, Brazil; 3Centro de Investigaciones Endocrinologícas Dr César Bergadá, Buenos Aires, Argentina; 4Instituto da Criança do Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil


Introduction: Noonan syndrome (NS) is a relative frequent genetic disorder, mainly characterized by dysmorphic face features, congenital heart defects and short stature. Though delayed pubertal development has been described in both sexes, the physiopathological root remains unclear. This study aims at characterizing puberty development in Noonan syndrome.

Materials and Methods: The study population included 111 individuals with a molecular diagnosis of NS. Data on puberty development was retrospectively collected from medical records. The sample was torn into two groups according to the presence or absence of delayed puberty. The correlation between age of puberty onset or occurrence of delayed puberty with sex, genotype, use of recombinant growth hormone (rhGH), cryptorchidism, heart disease, height, body mass index (BMI), IGF-1 levels, and bone age before puberty was assessed.

Results: Delayed puberty was found in 25% patients with similar frequency in boys and girls. The table below summarizes features analyzed in each group. Height SDS before puberty were significantly lower on delayed puberty group. Besides, adult height was similar in both groups. No correlation was found between sex, genotype, use of rhGH, cryptorchidism, heart disease, BMI SDS, IGF-1 levels, and pubertal delay or age at start of puberty.

Delayed PubertyNormal PubertyP-values
Sex (F:M)14 : 1444 : 550.759
Pathogenic variant in PTPN1116 (57%)71 (71%)0.217
Use of rhGH15 (54%)36 (36%)0.155
Age at the start of puberty (y)
Male15.1 ± 1.011.7 ± 1.0<0.001
Female14.2 ± 1.411.1 ± 1.3<0.001
Age of evaluation before puberty onset (y)8.7 ± 0.58.9 ± 0.50.129
Height-SDS before puberty onset -3.4 ± 1.6-2.3 ± 0.90.003
BMI SDS before puberty onset-0.5 ± 1.1-0.3 ± 1.00.294
IGF1-SDS before puberty onset-1.3 ± 1.4-0.3 ± 1.20.090
Bone age delay before puberty onset-2.0 ± 1.5-1.4 ± 1.40.088
Time to complete puberty (T2 to T5) (y)3.4 ± 2.1 (n = 10)3.9 ± 1.8 (n = 30)0.268
Adult Height SDS-2.3 ± 1.1 (n = 20)-2.0 ± 0.9 (n = 38)0.179

Conclusion: Delayed puberty is frequently observed in children with NS and resembles constitutional delay of growth and puberty seen in children with idiopathic short stature. The lack of correspondence between genotype and pubertal delay may show that this feature is linked to the RAS/MAPK signal transduction pathway in a general way.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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