Gonadal dysgenesis and Rokitansky syndrome. A case report

Area of Science:

• Reproductive Endocrinology
• Human Genetics
• Gynecology

Background:

• Gonadal dysgenesis presents as primary amenorrhea without sexual development due to absent ovaries.
• Rokitansky syndrome involves primary amenorrhea with sexual development but absent uterus, despite normal ovarian function.
• The co-occurrence of gonadal dysgenesis and Rokitansky syndrome is exceptionally rare.

Observation:

• A 19-year-old woman presented with primary amenorrhea and absent secondary sexual characteristics.
• Pelvic ultrasound revealed the absence of both uterus and ovaries.
• Karyotype analysis identified mosaicism (45,X/46,Xdic(X)) with 12% of cells exhibiting a dicentric X chromosome.

Findings:

• The patient exhibited primary amenorrhea, lack of sexual development, and absence of uterus and ovaries.
• Gonadotropin levels were indicative of menopausal range.
• The karyotype revealed a specific X chromosome abnormality (45,X/46,Xdic(X))

Implications:

• This case highlights the complex interplay of genetic abnormalities and congenital malformations affecting reproductive capacity.
• The patient presents with two distinct reproductive dysfunctions: gonadal dysgenesis (linked to karyotype) and congenital uterine absence.
• Currently, no established treatment exists for the reproductive dysfunction observed in this patient.