Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life

Author(s)

Wisniewski, Amy B. ^[1] ; Batista, Rafael L. ^[2] ; Costa, Elaine M. F. ^[2] ; Finlayson, Courtney ^[3] ; Palma Sircili, Maria Helena ^[2] ; Denes, Francisco Tibor ^[4] ; Domenice, Sorahia ^[2] ; Mendonca, Berenice B. ^[2]

Affiliation

^[1] Oklahoma State Univ, Psychol Dept, Stillwater, OK 74078 - USA

^[2] Univ Sao Paulo, Med Sch, Dept Internal Med, Div Endocrinol, BR-05403000 Sao Paulo - Brazil

^[3] Northwestern Univ, Ann & Robert H Lurie Childrens Hosp Chicago, Div Endocrinol, Feinberg Sch Med, Chicago, IL 60611 - USA

^[4] Univ Sao Paulo, Med Sch, Dept Surg, Div Urol, BR-05403000 Sao Paulo - Brazil

• Document type: Review article
• Source: ENDOCRINE REVIEWS; v. 40, n. 6, p. 1547-1572, DEC 2019.
• Web of Science Citations: 0

Abstract

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensusmeeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to specific etiologies underlying 46,XY DSD, appropriate and optimal options for genitoplasty, long-term quality of life, sexual function, involvement with intimate partners, and optimizing fertility potential. (AU)

• FAPESP's process: 05/04726-0 - Molecular characterization of congenital endocrine diseases that affect growth and development
• Grantee: Ana Claudia Latronico Xavier
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine
• Grantee: Berenice Bilharinho de Mendonça
• Support Opportunities: Research Projects - Thematic Grants