Ambiguous sex syndromes

Sexuality and Sexual Differentiation Syndromes

Ambiguous sex syndromes

Adrenal Virilism, Adrenogenital Syndrome, 21-Hydroxylation Deficiency, 11-Beta Hydroxylase Deficiency, 3-Beta Hydroxysteroid Dehydrogenase Deficiency, 17 Alpha Hydroxylase Deficiency with 17, 20-Lyase Deficiency, 17-Beta Hydroxysteroid Deficiency, 17-Ketosteroid Reductase Deficiency, Cholesterol Desmolase Deficiency, Lipoid Hyperplasia-Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia (enzyme deficiencies at different stages of hormone production, including 3-Beta Hydroxy-Steroid Dehydrogenase (HSD) Deficiency, 17-Hydroxylase Deficiency, 21-Hydroxylase Deficiency, 17-20 Desmolase Deficiency, 11-Beta Hydroxylase Deficiency, and 17-Alpha Hydroxylase).

Ambiguous Genitalia Support Network: PO Box 313; Clements CA 95227-0313; (or 428 E. Elm St. #4D, Lodi, CA 95240); (209) 727-0313; E-mail: esagsn@hotmail.com

Androgen Insensitivity Syndrome Support Network: 4203 Genesee Avenue, #103-436; San Diego, CA 92117-4950; Phone: 619-569-5254; Contact: Sherri A. Groveman

National Adrenal Diseases Foundation: 505 Northern Boulevard; Great Neck NY 11021; (516) 487-4992; e-mail: nadf@aol.com; Web site: http://medhelp.org/www/nadf.htm (link temporarily not working Sept 2001)

Intersex Society of North America (ISNA): P.O. Box 31791
San Francisco, CA 94131
Email: info@isna.org
Web Site: http://www.isna.org/

Evaluation of the Newborn With Developmental Anomalies of the External Genitalia (RE9958), Policy Statement, Pediatrics Volume 106, Number 01, July 2000, pp 138-142, American Academy of Pediatrics, Committee on Genetics, Section on Endocrinology, Section on Urology

United Kingdom Intersex Association (UKIA)

The Pituitary Foundation, PO Box 1944, Bristol, BS99 2UB, United Kingdom, Tel/fax: 0870 774 3355. E-mail: helpline@pituitary.org.uk

Also See:

National organizations information on genetic conditions or birth defects
Information for Siblings and Family Members

Adrenal gland conditions
Endocrinology and Diabetes , BCCH Booklet
Chromosome Syndromes resources
Complete Androgen Insensitivity Syndrome (HTML format)
Complete Androgen Insensitivity Syndrome (PDF AdobeŽ format)
Endocrinology resources
Guidelines for dealing with individuals with ambiguous genitalia, M. Diamond
Hermaphrodite Education and Listening Post (H.E.L.P.)
Intersexuality - A Plea for Honesty and Emotional Support, Association for Humanistic Psychology
Intersex Society of North America (ISNA), includes frequently asked questions
Kallmann Syndrome article, from Medical Student page
Mayer-Rokitansky-Kustur-Hauser Syndrome Support Group
Merck Manual information, Genitourinary Disorders
Sex Chromosome Anomalies
Sexuality Information and Education Council, United States

References

Pinsky L, RP Erickson, and RN Schimke, Genetic Disorders of Human Sexual Development, Oxford University Press, NY 1999, ISBN 0-19-510907-4
Rokitansky syndrome and MURCS association - clinical features and basis for diagnosis. International Journal of Fertility and Womens Medicine, Sep-Oct 1999, 44(5):250-5
MURCS Association: a review of seven cases, J Postgrad Med, Jul-Sep1992;38(3):109-11

To locate a genetic counselor or clinical geneticist in your area:

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