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

• Published in: Fertility and sterility Vol. 83; no. 1; pp. 201 - 204
• Main Authors: Mutchinick, Osvaldo M., Morales, Juan J., Zenteno, Juan C., del Castillo, Carlos Fernández
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 2005; Elsevier Science
• Subjects: 46,XX karyotype; Adolescent; Biological and medical sciences; Female; Gonadal agenesis; Gonadal Dysgenesis, 46,XX - genetics; Gonadal Dysgenesis, 46,XX - pathology; Gynecology. Andrology. Obstetrics; Humans; Medical sciences; Mullerian Ducts - abnormalities; paramesonephric derivatives; Gonadal agenesis; 46,XX karyotype; paramesonephric derivatives; Human; Agenesis; Genital system; Case study; Malformation; Fertility; Gonad; poramesonephric derivatives; Cytogenetics; Derivative; Female; Karyotype
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/j.fertnstert.2004.07.954

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.