Sexual Development and prenatal growth. Analysis of the prevalence of being born Small for Gestational Age (SGA) in a large DSD cohort, and the genotypic frequency of GHR gene polymorphism in non-disgenetic undiagnosed 46,XY DSD patients

MATTONE MC , PEREZ GARRIDO N, COSTANZO M, HIDALGO CORONADO L, BERGER M , ZOFF L, BAQUEDANO MS, RAMIREZ P, BERENSZTEIN E, CIACCIO M, MARINO R, BELGOROSKY A, GUERCIO G

Berna

Simposio; 9th I-DSD Symposium 2022; 2022

Background:Being born SGA is an associated condition to DSD, especially in those patients with non-specific disorders of undermasculinization. The relationship between the presence of genital abnormalities and intrauterine growth restriction is unknown. The GH-IGF system might be involved in mice and human sex differentiation. Furthermore, the GHR gene polimorfism (d3-GHR) has been associated with decreased fetal growth and lower birth weight.Aims:To evaluate the prevalence of being born SGA in a cohort of DSD patients evaluated in a single tertiary pediatric center, and its relationship with karyotype, molecular diagnosis, and phenotype. To analyze the genotypic frequency of d3-GHR gene polymorphism in the undervirilized undiagnosed 46,XY DSD group according to fetal restriction.Methods:Patients were classified according to karyotype. Birth Weight and length standard deviation SDS were calculated according to gestational age (Intergrowth21). Genotypic frequency of d3-GHR was also compared with the allelic frequency in control subjects (n=159).Results:We evaluated a cohort of 556 DSD patients classified as DSD46,XY 33%, DSD 46,XX 37%, and chromosomal DSD 29%. SGA was found in 25.4% of DSD 46,XY, 7% of 46,XX, and in 31% of chromosomal DSD. Molecular diagnosis was achieved in 38% of 46,XY and 95% 46,XX DSD patients. Accordingly to molecular diagnosis among 46,XY DSD patients, the frequency of SGA was higher in non-disgenetic patients without molecular diagnosis and apparently normal testicular function (p