A Gender Assessment Team: experience with 250 patients over a period of 25 years.
OBJECTIVE
To describe a Gender Assessment Team that has provided a multidisciplinary approach to the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of patients with ambiguous genitalia, intersex disorders, and other genital anomalies, collectively termed disorders of sex development; and to determine the major diagnostic categories and approach.


METHODS
A retrospective review of 250 patients evaluated by the Team at Children's Hospital and Regional Medical Center in Seattle, WA, from January 1981 through December 2005. The Team included the following specialties: medical genetics, cytogenetics, gynecology, pediatric urology, endocrinology, and psychiatry.


RESULTS
Of the subjects, 177 were infants, 46 were children or adolescents, and 27 had a multisystem genetic condition. The most common diagnoses were congenital adrenal hyperplasia (14%), androgen insensitivity syndrome (10%), mixed gonadal dysgenesis (8%), clitoral/labial anomalies (7%), hypogonadotropic hypogonadism (6%), and 46,XY small-for-gestational-age males with hypospadias (6%).


CONCLUSIONS
The six most common diagnoses comprised 50% of the cohort. The expertise of a multidisciplinary team allowed for integrated care for patients with disorders of sex development and identification of novel conditions. Geneticists play an important role in a team approach through knowledge of genetic testing options and diagnosis of patients with karyotypic abnormalities and syndromes with genital anomalies.
Parisi
Melissa A
MA
Division of Genetics and Developmental Medicine, Department of Pediatrics, Children's Hospital and Regional Medical Center, Seattle, Washington 98105, USA. mparisi@u.washington.edu
Ramsdell
Linda A
LA
Burns
Mark W
MW
Carr
Michael C
MC
Grady
Richard E
RE
Gunther
Daniel F
DF
Kletter
Gadi B
GB
McCauley
Elizabeth
E
Mitchell
Michael E
ME
Opheim
Kent E
KE
Pihoker
Catherine
C
Richards
Gail E
GE
Soules
Michael R
MR
Pagon
Roberta A
RA
D000293:Adolescent; D002648:Child; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D033183:Interdisciplinary Communication; D008297:Male; D012189:Retrospective Studies