Back to Search
Start Over
Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents.
- Source :
-
Seminars in pediatric surgery [Semin Pediatr Surg] 2019 Oct; Vol. 28 (5), pp. 150841. Date of Electronic Publication: 2019 Sep 19. - Publication Year :
- 2019
-
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.<br /> (Copyright © 2019 Elsevier Ltd. All rights reserved.)
- Subjects :
- Adolescent
Biopsy
Decision Making, Shared
Ethics, Medical
Fertility
Gender Identity
Genetic Predisposition to Disease
Hormone Replacement Therapy
Humans
Immunohistochemistry
Infant, Newborn
Karyotyping
Laparoscopy
Magnetic Resonance Imaging
Neoplasms, Germ Cell and Embryonal genetics
Physical Examination
Ultrasonography
Gonadal Dysgenesis, Mixed diagnosis
Gonadal Dysgenesis, Mixed therapy
Mosaicism
Subjects
Details
- Language :
- English
- ISSN :
- 1532-9453
- Volume :
- 28
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Seminars in pediatric surgery
- Publication Type :
- Academic Journal
- Accession number :
- 31668295
- Full Text :
- https://doi.org/10.1016/j.sempedsurg.2019.150841