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https://observatorio.fm.usp.br/handle/OPI/38234
Title: | Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort |
Authors: | BARROSO, Priscila Sales; JORGE, Alexander Augusto Lima; LERARIO, Antonio Marcondes; MONTENEGRO, Luciana Ribeiro; VASQUES, Gabriela Andrade; AMATO, Lorena Guimaraes Lima; SILVEIRA, Leticia Ferreira Gontijo; MENDONCA, Berenice Bilharinho; LATRONICO, Ana Claudia |
Citation: | NEUROENDOCRINOLOGY, v.110, p.959-966, 2020 |
Abstract: | Introduction:Constitutional delay of growth and puberty (CDGP) is the most prevalent cause of delayed puberty in both sexes. Family history of delayed puberty (2 or more affected members in a family) has been evidenced in 50-75% of patients with CDGP and the inheritance is often consistent with autosomal dominant pattern, with or without complete penetrance. However, the molecular basis of CDGP is not completely understood.Objective:To characterize the clinical and genetic features of a CDGP cohort.Methods:Fifty-nine patients with CDGP (48 boys and 11 girls) underwent careful and long-term clinical evaluation. Genetic analysis was performed using a custom DNA target enrichment panel designed to capture 36 known and candidate genes implicated with pubertal development.Results:All patients had spontaneous or induced pubertal development (transient hormonal therapy) prior to 18 years of age. The mean clinical follow-up time was 46 +/- 28 months. Male predominance (81%), short stature (91%), and family history of delayed puberty (59%) were the main clinical features of this CDGP -cohort. Genetic analyses revealed 15 rare heterozygous missense variants in 15 patients with CDGP (25%) in seven different genes (IGSF10,GHSR,CHD7,SPRY4, WDR11, SEMA3A,andIL17RD).IGSF10andGHSRwere the most prevalent affected genes in this group.Conclusions:Several rare dominant variants in genes implicated with GnRH migration and metabolism were identified in a quarter of the patients with familial or sporadic CDGP, suggesting genetic heterogeneity in this frequent pediatric condition. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MCM Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/25 Artigos e Materiais de Revistas Científicas - LIM/42 |
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