Ovotesticular Disorder of Sex Development

Ovotesticular Disorder of Sex Development

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Ovotesticular Disorder of Sex Development is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • ovotesticular DSD
  • true hermaphroditism
  • true gonadal intersex

Disorder Subdivisions

  • None

General Discussion

Ovotesticular disorder of sex development (ovotesticular DSD) is a very rare disorder in which an infant is born with the internal reproductive organs (gonads) of both sexes (female ovaries and male testes). The gonads can be any combination of ovary, testes or combined ovary and testes (ovotestes). The external genitalia are usually ambiguous but can range from normal male to normal female.

Symptoms

Ovotesticular DSD is characterized by the presence of both ovarian and testicular tissue in the same individual. An ovotestis is present in approximately 2/3 of affected individuals.



An abnormal vagina is often present and if a uterus is present it is usually underdeveloped (hypoplastic). If a penis is present, it may show an abnormality in which the canal (urethra) that carries urine from the bladder opens on the underside (hypospadias). When testes are present, they are usually undescended (cryptorchidism).



Upon reaching puberty, breast development, feminization and menstruation may occur. Most affected individuals are infertile but ovulation or spermatogenesis is possible.



Tumors of the ovaries or testes have been reported but are rare.

Causes

The exact cause of ovotesticular DSD is known only in a small percentage of cases. Most affected individuals have a 46,XX chromosomal make-up (karyotype), which normally results in female sexual development. In about 10% of patients, testicular tissue in an individual with a 46,XX karyotype is present as a result of a translocation of the SRY gene on the Y chromosome to the X chromosome or another chromosome. There have been a small number of cases reported with genetic variations of other genes such as deletion of DMRT1, duplication of SOX9, mutaions in RSPO1. Some rare individuals with ovotesticular DSD have a 46,XY karyotype (which normally results in male sexual development) or a karyotype that shows some cells with XY chromosomes and others with XX chromosomes (XX/XY mosaicism).



Chromosomes are located in the nucleus of human cells and carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes numbered from 1 through 22 are called autosomes and the sex chromosomes are designated X and Y. Normally, males have one X and one Y chromosome and females have two X chromosomes.

Affected Populations

Ovotesticular DSD is the rarest disorder of sex development in humans and has an approximate incidence of less than 1/20,000. At least 500 affected individuals have been reported.

Standard Therapies

Diagnosis

Ovotesticular DSD is diagnosed by a combination of tests including chromosome analysis, hormone testing, ultrasound and MRI.



Treatment

A team of professionals with experience in treating disorders of sex development should work together to treat a child with ovotesticular DSD.



Recommendations about treatment have evolved in recent years. Gender assignment remains recommended in the neonatal period, based on the appearance of the external genitalia, the formation of the internal reproductive glands, the potential for fertility and the available medical literature. But lack of outcome data has led to challenge the practice of early genital surgery.



Some experts now suggest delaying surgery and involving the child in decision-making if possible. Factors to consider include the ability to reconstruct functioning genitals as well as psychological, behavioral, chromosomal, hormonal and neural factors.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com



Contact for additional information about ovotesticular disorder of sex development:



Eric Vilain, M.D., Ph.D.

Professor of Human Genetics, Pediatrics and Urology

Director, Center for Gender-Based Biology

Chief, Medical Genetics, Department of Pediatrics

David Geffen School of Medicine at UCLA

Gonda Center, Room 5506

695 Charles Young Drive South

Los Angeles, CA 90095-7088

Phone: (310) 267-2455

Fax: (310) 794-5446

E-mail: evilain@ucla.edu

References

JOURNAL ARTICLES

Wiersma R. The clinical spectrum and treatment of ovotesticular disorder of sexual development. Adv Exp Med Biol. 2011;707:101-3.



Hughes IA, Houk C, Ahmed SF, Lee PA; Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006;2(3):148-62.



Kim KR, Kwon Y, Joung JY, Kim KS, Ayla AG and Ro JY. True hermaphroditism and mixed gonadal dysgenesis in young children: A clinicopathologic study of 10 cases. Modern Pathology. 2002; 15(10):1013-1.



INTERNET

Hutcheson J, Snyder III HM. Ambiguous Genitalis and Intersexuality. Emedicine. http://emedicine.medscape.com/article/1015520-overview . Updated January 11, 2012. Accessed August 30, 2012.



Medline Plus: A Service of the U.S. National Library of Medicine and the National Institutes of Health. Medical encyclopedia: Intersex. www.nlm.nih.gov/medlineplus/ency/article/001669. Updated August 2, 2011. Accessed August 30, 2012.



Orphanet.http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2138

Last Updated February 2005. Accessed August 30, 2012.

Resources

MAGIC Foundation

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Accord Alliance

531 Route 22 East #244

Whitehouse Station, NJ 08889

USA

Tel: (908)349-0534

Fax: (801)349-0534

Email: janet.green@accordalliance.org

Internet: http://www.accordalliance.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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