BiosciAbstract - Analysis of the GHR gene polymorphism in a non-disgenetic 46,XY DSD cohort without molecular diagnosis

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Background: Being born small for gestational age (SGA) is an associated condition to nonspecific 46,XY DSD (without molecular diagnosis and with no specific disorders of undermasculinization). However, the underlying mechanism of the relationship between the presence of genital abnormalities and intrauterine growth restriction is unknown.The GH-IGF system is crucial for sex differentiation in mice and in humans, members of this system were detected in embryonic and fetal gonads.Furthermore, the GHR gene polimorfism (GHRd3) has been associated with decreased fetal growth and lower birth weight.Aims: To analyze the genotypic frequency of GHRd3 gene poly¬morphism in undervirilized undiagnosed 46,XY DSD patients according to fetal restriction, and its relationship with gonadal function in minipuberty.Methods: A cohort of 46,XY DSD patients follow in a single tertiary pediatric center was evaluated (n=187). Birth weight and length standard deviation were calculated according to gestational age (Intergrowth21). The identification of GHR genotypes GHRfl and GHRd3 were analyzed by multiplex PCR assay in nonspecific 46,XY DSD patients. Genotypic frequency of GHRd3 was evaluate according to fetal restriction and compared with the allelic frequency in control subjects (n=159). Serum LH, FSH, Testosterone, and AMH levels were analyzed according fetal restriction and the genotypic variants of the GHR gene. Results: SGA was found in 25.4% of the 46,XY DSD cohort. Molecular diagnosis was achieved in 38%. The frequency of SGA was higher in non-disgenetic patients without molecular diagnosis and apparently normal testicular function Información suministrada por el agente en SIGEVA