Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents
| Autor: | Margaret Pearson, Erin M. Garvey, Kathleen van Leeuwen, Erica M. Weidler |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Pediatrics
medicine.medical_specialty Adolescent Hormone Replacement Therapy media_common.quotation_subject Biopsy Fertility Malignancy Article 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Medicine Humans In patient Congenital adrenal hyperplasia Ethics Medical Genetic Predisposition to Disease Disorders of sex development Physical Examination media_common Ultrasonography Gender identity business.industry Mosaicism Infant Newborn Gender Identity Neoplasms Germ Cell and Embryonal medicine.disease Immunohistochemistry Magnetic Resonance Imaging 030220 oncology & carcinogenesis Karyotyping Pediatrics Perinatology and Child Health Gonadal Dysgenesis Mixed Surgery Androgen insensitivity syndrome Laparoscopy Mixed gonadal dysgenesis business Decision Making Shared |
| Zdroj: | Semin Pediatr Surg |
| ISSN: | 1532-9453 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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