摘要
To report a rare case of gonadal agenesis with rudimentary paramesonephric ducts derivatives in a female with a 46,XX normal karyotype. Case study. National Institute of Health. An 18- year- old female with primary amenorrhea and lack of secondary sexual development. Clinical, gynecological, endocrine, and genetic evaluation. Laboratory studies conducted included measurement of pituitary, ovary, and thyroid hormones; analyses of G- banded chromosomes in peripheral blood and fibroblast cultures; search for genomic Y- chromosome DNA by fluorescence in situ hybridization and molecular biology techniques; X- ray, ultrasonography, echocardiographic and laparoscopic studies for the assessment of bone age, and genitourinary and other associated malformations. Clinical, hormonal, anatomical, and genetic characteristics of the patient. The studies performed confirmed a prepubertal female with hypergonadotrophic hypogonadism, bilateral gonadal agenesis, a rudimentary uterus and fallopian tubes, a normal vagina, kidney, and urinary tract structures, and a 46,XX normal karyotype. The search for centromeric Y- chromosome DNA and SRY and ZFY genes was negative. A primary deficiency confined to the gonadal blastema and the nearby coelomic epithelium is proposed as an alternative embryologic mechanism to explain the occurrence of this singular sexual developmental defect.
To report a rare case of gonadal agenesis with rudimentary paramesonephric ducts derivatives in a female with a 46,XX normal karyotype. Case study. National Institute of Health. An 18- year- old female with primary amenorrhea and lack of secondary sexual development. Clinical, gynecological, endocrine, and genetic evaluation. Laboratory studies conducted included measurement of pituitary, ovary, and thyroid hormones; analyses of G- banded chromosomes in peripheral blood and fibroblast cultures; search for genomic Y- chromosome DNA by fluorescence in situ hybridization and molecular biology techniques; X- ray, ultrasonography, echocardiographic and laparoscopic studies for the assessment of bone age, and genitourinary and other associated malformations. Clinical, hormonal, anatomical, and genetic characteristics of the patient. The studies performed confirmed a prepubertal female with hypergonadotrophic hypogonadism, bilateral gonadal agenesis, a rudimentary uterus and fallopian tubes, a normal vagina, kidney, and urinary tract structures, and a 46,XX normal karyotype. The search for centromeric Y- chromosome DNA and SRY and ZFY genes was negative. A primary deficiency confined to the gonadal blastema and the nearby coelomic epithelium is proposed as an alternative embryologic mechanism to explain the occurrence of this singular sexual developmental defect.
