ObjectivesTo catalogue patients with DSD and to assess the concordance of genotype and phenotype with sex assignment at birth compared to sex assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions.DesignAfter obtaining IRB approval, a retrospective chart review was conducted patients seen in the Gender Medicine Clinic (GMC) between 2006–2009 at Texas Children’s Hospital (TCH), Houston, Texas. McNemar’s test and Kappa agreement provided associations of various factors with sex assignment at birth prior to GMT assessment and after GMT assessment.ParticipantsForty-seven patients seen in the GMC with confirmed DSD.ResultsForty-seven patients met the inclusion criteria. The mean age of the patients at the time of GMT evaluation was 9.1+/−6.1 years; 61.7% had male karyotype, and 38.3% had female karyotype; 51.1% had a male external phenotype, 42.6% had a female external phenotype, and 6.4% had phenotypic ambiguity. Sex assignment was concordant with genotype and phenotype in 63.8% and 86.4%, respectively of cases at the time of birth and in 76.6% and 97.7%, respectively, of cases after assessment by GMT.ConclusionLong-term outcomes are needed to establish standardized practice guidelines for decision-making.

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Background: Vascular tumors and malformations are rare among the vascular anomalies that affect the female external genitalia. Of the vascular tumors, hemangiomas are the most common lesions. Cavernous hemangiomas are less common then capillary hemangiomas, typically regressing completely by age 5 in 80% of patients. 1 Hemangiomas in general are asymptomatic. The clinical presentation of both vascular tumors and malformations is highly variable. The diagnosis depends on the clinical presentation and radiologic imaging. MRI is used to determine the extent of the lesions and their relationship to adjacent structures. Doppler ultrasound is often necessary to distinguish between a hemangioma and a vascular malformation. Vascular malformations are generally treated with sclerotherapy or embolization. Vascular tumors that enlarge, fail to regress, or if the patient complains of bleeding or discomfort usually require surgical excision.

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