From the Research
Diagnosis of Mixed Gonadal Dysgenesis (MGD)
- MGD is an abnormality of sexual differentiation (ASD) characterized by heterogeneous gonadal and phenotypic abnormalities 1
- Diagnostic criteria for MGD include:
- Müllerian and/or wolffian derivatives
- Bilateral intrabdominal or scrotal immature testicular tissue, or intrabdominal or scrotal immature testicular tissue with contralateral streak gonad 1
- Chromosomal evaluation may reveal various karyotypes, including 45,X/46,XY mosaicism, 46,XY, 46,XX, 46,XX/46,XY, and 45,X/46,Xi(Xq) 1, 2
- Imaging studies, such as ultrasound, may show features of an ovotestis, which can mimic ovotesticular disorder of sexual development 3
Treatment of Mixed Gonadal Dysgenesis (MGD)
- Early operative intervention is recommended to remove gonadal tissue and reduce the risk of malignancy 3, 2
- Laparoscopic exploratory surgery and orchiectomy may be performed to remove abnormal gonadal tissue and Müllerian duct remnants 2
- Hormone replacement therapy, such as recombinant human growth hormone (rhGH), testosterone, and artificial cycle, may be used to promote growth and development 4
- Regular follow-up and monitoring for gonadal malignancy are essential in patients with MGD 1, 3, 2
Clinical Features of Mixed Gonadal Dysgenesis (MGD)
- Patients with MGD may present with a wide range of phenotypes, including ambiguous genitalia, short stature, and growth retardation 1, 4
- Some patients may exhibit stigmata of Turner's syndrome, such as specific somatic signs 4, 5
- The external genitalia may show varying degrees of masculinization or feminization, and may include features such as hypospadias, clitoridauxe, or ambiguous genitalia 1, 4