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.


METHODS
Case study.


METHODS
National Institute of Health.


METHODS
An 18-year-old female with primary amenorrhea and lack of secondary sexual development.


METHODS
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.


METHODS
Clinical, hormonal, anatomical, and genetic characteristics of the patient.


RESULTS
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.


CONCLUSIONS
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.
Mutchinick
Osvaldo M
OM
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Mexico City, Mexico. osvaldo@servidor.unam.mx
Morales
Juan J
JJ
Zenteno
Juan C
JC
del Castillo
Carlos Fernández
CF
D000293:Adolescent; D005260:Female; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics / Q000473:pathology*; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*