From the Guidelines
Boston Children's Hospital is the top-ranked pediatric hospital in the country for treating mixed gonadal dysgenesis, including cases with 88% Y and 12% X chromosomal mosaicism. This hospital, along with others such as Cincinnati Children's Hospital, Children's Hospital of Philadelphia (CHOP), Seattle Children's Hospital, and Mayo Clinic Children's Center, offers specialized care for disorders of sex development (DSD) [ 1 ]. These institutions have comprehensive multidisciplinary teams that include pediatric endocrinologists, urologists, geneticists, and psychologists who work together to provide individualized care plans.
The approach to treating mixed gonadal dysgenesis involves careful evaluation of gonadal tissue and hormonal assessment, considering both the physical development and psychological well-being of the child [ 1 ]. Treatment may include hormone therapy, surgical management, and psychological support, with decisions about gender assignment and potential gonadectomy made collaboratively with families due to the increased risk of gonadal tumors with Y chromosome material.
Key aspects of care in these hospitals include:
- Comprehensive multidisciplinary teams for DSD
- Individualized care plans considering physical and psychological well-being
- Expertise in hormonal, surgical, and psychological management
- Collaborative decision-making with families regarding gender assignment and gonadectomy
- Early referral to specialized centers for optimal outcomes, as emphasized by the Chicago Consensus in 2005 [ 1 ].
From the Research
Hospitals Dealing with Mixed Gonadal Dysgenesis
- There is no specific information available in the provided studies about the number one pediatric hospital in the country that deals with mixed gonadal dysgenesis.
- However, the studies suggest that mixed gonadal dysgenesis is a complex condition that requires multidisciplinary care, including urologists, endocrinologists, and psychologists 2, 3, 4, 5, 6.
- Some hospitals that may deal with mixed gonadal dysgenesis include those with pediatric urology and endocrinology departments, as well as those that offer fertility preservation services for individuals with differences of sex development 6.
Characteristics of Mixed Gonadal Dysgenesis
- Mixed gonadal dysgenesis is a difference of sex development characterized by a 45,X/46,XY karyotype, with a unilateral streak gonad and persistent Müllerian duct structures 2, 4, 5.
- Individuals with mixed gonadal dysgenesis may exhibit a wide range of phenotypic heterogeneity, including ambiguous genitalia and varying degrees of virilization 2, 5.
- The condition is often associated with an increased risk of gonadoblastoma, and individuals may require prophylactic gonadectomy 4, 6.
Management and Treatment
- Management of mixed gonadal dysgenesis requires a multidisciplinary approach, including psychological support and counseling 2, 6.
- Individuals with mixed gonadal dysgenesis may require genital surgery, hormone replacement therapy, and fertility preservation services 2, 6.
- Gonadal tissue cryopreservation is a novel approach to experimental fertility preservation for individuals with mixed gonadal dysgenesis 6.