Clinical Management in Mixed Gonadal Dysgenesis with Chromosomal Mosaicism: Considerations in Newborns and Adolescents
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In brief
In brief
This article proposes a patient-centered management protocol for mixed gonadal dysgenesis that balances gonadal malignancy risk against preserving endogenous hormones and fertility. The authors advocate for shared decision-making and delayed surgical interventions, addressing both newborn and adolescent care while respecting gender identity development.
Written by the GCMD Library team from the article.
Publication date: Available online 19 September 2019
Source: Seminars in Pediatric Surgery
Author(s): Erica M. Weidler, Margaret Pearson, Kathleen van Leeuwen, Erin Garvey
Abstract
Individuals born on the spectrum of genetic abnormalities known as mixed gonadal dysgenesis (MGD) have a wide range of anatomical findings and management can be challenging in the newborn and adolescent. Historically, many individuals with MGD have undergone gonadectomy to avert the risk of gonadal malignancy. However, gonadectomy deprives patients of the benefits of their endogenous hormones, potential fertility, and in the case with MGD, has historically been done prior to addressing gender identity. Some patient advocates have proposed a delayed approach to surgical reconstructions and/or gonadectomy in other differences/disorders of sex development (DSD), particularly in patients with congenital adrenal hyperplasia and androgen insensitivity syndrome. In many areas of the world, there continues to be a shift toward delayed reconstructions and hesitancy regarding irreversible gonadectomy. To date, no clinical management protocol addressing these issues from a patient-centered approach has been described. We review what is known about malignancy risk and propose a management protocol for those with MGD that involves shared decision making regarding the gonads and addresses the long-term challenges with regard to gender and anatomy.