A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype.

OBJECTIVE

To report a rare case of gonadal agenesis with rudimentary paramesonephric ducts derivatives in a female with a 46,XX normal karyotype.

DESIGN

Case study.

SETTING

National Institute of Health.

PATIENT(S): An 18-year-old female with primary amenorrhea and lack of secondary sexual development.

INTERVENTION(S): 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.

MAIN OUTCOME MEASURE(S): Clinical, hormonal, anatomical, and genetic characteristics of the patient.

RESULT(S): 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.

CONCLUSION(S): 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.