ESPE2022 Poster Category 1 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (56 abstracts)
Analysis of the GHR gene poly¬morphism in a non-disgenetic 46,XY DSD cohort without molecular diagnosis.
Maria Celeste Mattone 1,2 , Natalia Perez Garrido 1 , Mariana Costanzo 1 , Lorena Hidalgo 3 , Malena Berger 4 , Luciana Zoff 1 , Maria Sonia Baquedano 1,2 , Pablo Ramirez 1 , Esperanza Berensztein 1 , Marta Ciaccio 1 , Roxana Marino 1 , Alicia Belgorosky 1,2 & Gabriela Guercio 1,2
1Hospital de Pediatría Garrahan, Buenos Aires, Argentina; 2CONICET, Buenos Aires, Argentina; 3Hospital de Niños Pedro de Elizalde, Buenos Aires, Argentina; 4Hospital Universitario Austral, Buenos Aires, Argentina
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 (P<0.05). In these patients no difference was found in the frequency of GHRd3 allele polymorphism among SGA and non-SGA, neither the control group (P=ns). In these subjects, the parameters of gonadal function during minipuberty were not different according the GHR genotypes or SGA condition.
Conclusions: The frequency of being born SGA in 46,XY DSD patients was higher in those patients with nonspecific 46,XY DSD. In this group, the allelic frequency of the GHRd3 gene polymorphism was similar to controls irrespectively of being born SGA. Furthermore, testicular function during minipuberty seems to be unrelated to the GHR genotype and fetal restriction. More patients and further studies are needed to evaluate these associations, and to clarify the role of other early factors involved in early embryonic growth and development, and in gonadal differentiation.
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