46, XY disorders of sexual development
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
46, XY DSD; 46, XY female; XY female
A 46, XY disorder of sex development (DSD) is a condition in which an individual with one
- 46, XY complete gonadal dysgenesis (Swyer syndrome)
- 46 XY, partial gonadal dysgenesis (Denys-Drash syndrome, Frasier syndrome)
- Ovotesticular DSD
- Testicular regression
syndrome(vanishing testes syndrome)
- Leydig cell aplaisa/hypoplasia (due to hCG/LH receptor abnormalities)
- T biosynthesis defects
- POR gene abnormality (defective 17,20-lyase activity of P450c17)
- Persistent Mullerian duct syndrome (AMH or AMH-receptor genes abnormality)
- 5 alpha-reductase type 2 deficiency
- Complete and partial androgen insensitivity syndromes
Therefore, several biologic factors such as genetic and hormonal influences contribute to gender identity, gender role behavior, and sexual orientation in humans, but this relationship is also modified by psychological, social, and cultural factors. Sex assignment of children with ambiguous genitalia remains a difficult decision for the families involved and subject to controversial discussion among professionals and self-help groups. Every case is unique and it is suggested that gender assignment should be based on clinical experience, study of the literature, and interviews with affected individuals.
In a large study recently published about women with complete androgen insensitivity syndrome (CAIS) it was found that they perceive themselves as highly feminine throughout development. Additionally, CAIS women largely report their sexual attraction, fantasies, and experiences were best described as female heterosexual. CAIS women unanimously reported satisfaction with being a woman (100%). Another study with 46, XY individuals with androgen secreting testicular
The World Health Organization provides relevant information about gender and genetics in the following links: Genetic Components of Sex and Gender
Gender Assignment of Intersex Infants and Children
Legal Definitions of Gender
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss 46, XY disorders of sexual development. Click on the link to view a sample search on this topic.
- Gönül Öçal. Current Concepts in Disorders of Sexual Development. Clin Res Pediatr Endocrinol. 2011 September; 3(3):105–114.
- Ostrer H. 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle: 1993-2008 May 21 [updated 2009 Sep 15]. ;
- Gönül Öçal . Current Concepts in Disorders of Sexual Development. Clin Res Pediatr Endocrinol. 2011 September; 3(3):105–114; https://www.ncbi.nlm.nih.gov/pubmed?term=PMC3184510. Accessed 10/22/2012.
- Thyen U, Richter-Appelt H, Wiesemann C, Holterhus PM & Hiort O. Deciding on gender in children with intersex conditions: considerations and controversies. Treat Endocrinol. 2005; 4(1):1-8. https://www.ncbi.nlm.nih.gov/pubmed/15649096. Accessed 7/7/2015.
- Wisniewski AB & cols. Complete Androgen Insensitivity Syndrome: Long-Term Medical, Surgical, and Psychosexual Outcome. JCEM. July 2, 2013; 85:8. https://www.ncbi.nlm.nih.gov/pubmed/10946863. Accessed 7/7/2015.
- Ercan O, Kutlug S, Uysal O, Alikasifoglu M & Inceoglu D. Gender identity and gender role in DSD patients raised as females: a preliminary outcome study. Front Endocrinol. July 15, 2013; 4:86. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711069/. Accessed 7/7/2015.