There are many forms of gonadal dysgenesis. Gonadoblastomas, however, may be precursors to the development of a malignant (cancerous) tumor such as a dysgerminoma, which has also been reported to occur with greater frequency in women with Swyer syndrome than in the general population.Gonadal tumors can develop at any age including during childhood before a diagnosis of Swyer syndrome is even suspected.In most cases of Swyer syndrome, the exact cause of the disorder is unknown. Curr Opin Endocrinol Diabetes Obes. J Clin Endocrinol Metab.

Nat Rev Endocrinol.

Approximately 30 percent of women with Swyer syndrome develop a tumor that arises from the cells that forms the testes or ovaries (gonadal tumor). Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. Swyer syndrome is a genetic condition affecting sexual organ development, classified as a disorder of sex development (DSD).

Males usually have one X and one Y chromosome and females usually have two X chromosomes.In approximately 15-20 percent of patients, Swyer syndrome occurs due to mutations of the sex-determining region Y (Since only 15-20 percent of women with Swyer syndrome have a mutation of the Some women with Swyer syndrome have mutations in the Some cases of Swyer syndrome are not believed to be inherited, but rather the result of a new genetic mutation (de novo mutation) or abnormality that occurs for unknown reasons (spontaneously). BJOG. Swyer syndrome. JNMA J Nepal Med Assoc. Available at: The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Sexual development is usually determined by an individual's chromosomes; however, in Swyer syndrome, sexual development does not match the affected individual's chromosomal makeup.. People usually have 46 chromosomes in … 2010;87(6):898-904.Michala L, Goswami D, Creighton SM, Conway GS. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Swyer syndrome is classified as a disorder of sex development (DSD), which encompasses any disorder in which chromosomal, gonadal or anatomic sex development is abnormal. 46,XY Sex Reversal 1; SRXY1. In some individuals, the disorder is due to a spontaneous (de novo) genetic mutation that occurs in the egg or sperm cell.

This should be investigated and treated, if present.Genetic counseling is recommended for affected individuals and their families. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database. Available from http://www.ncbi.nlm.nih.gov/books/NBK1547/ Ostrer H. Disorders of sex development (DSDs): an update. 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. 2008;29:59-64.Zielinska D, Zajaczek S, Rzepka-Gorska I. Tumors of dysgenetic gonads in Swyer syndrome. Am J Hum Genet. 2012 Apr-Jun;52(186):72-4. Review. GeneReviews® [Internet].

2007;5:71.Lee PA, Houk CP, Ahmed SF, et al. The chance for a child to receive normal genes from both parents is 25%. Because they lack ovaries, girls with Swyer syndrome do not produce sex hormones and will not undergo puberty (unless treated with hormone replacement therapy). Steroidogenic factor-1 and human disease. Entry No: 233420.

Swyer syndrome is classified as a disorder of sex development (DSD), which encompasses any disorder in which chromosomal, gonadal or anatomic sex development is abnormal. Individuals with 46, XY DSD are at a greater risk than the general population of developing a gonadal tumor such as a gonadoblastoma or dysgerminoma.Disorders of sex development (DSDs) refer to a group of congenital disorders in which the development of abnormal chromosomal, gonadal, or anatomic sex is atypical. Michala L, Goswami D, Creighton SM, Conway GS. El-Khairi R, Achermann JC. Available from: Online Mendelian Inheritance in Man (OMIM).

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Two of the 46 chromosomes, known as X and Y, are called Changes affecting other genes have also been identified in a small number of people with The resources on this site should not be used as a substitute for professional medical care or advice. For information on genetic counseling, see the Resources section of this report.Swyer syndrome affects girls who have an XY chromosomal makeup, no ovaries, but functional female organs including the uterus, fallopian tubes and vagina. Epub 2014 Apr 23. Review.

Some individuals may have the urinary opening on the underside of the penis (hypospadias) with downward curvature of the penis (chordee).