Heeley JM, et al. - Authors performed a chart review to assess patients with ambiguous genitalia, and to stratify them as having 46, XX differences of sex development (DSD), 46, XY DSD, or sex chromosome DSD. Within these categories, they sought to establish specific diagnoses, type and frequency of other congenital anomalies and neoplasms, and gender assignment, as well as incidence of gender reassignment and transition. Additional congenital anomalies were often identified among patients with ambiguous genitalia. Establishment of a specific diagnosis is uncommon in 46, XY patients. Gender reassignment was observed in only a few patients outside of the newborn period. New information regarding long-term health, quality of life, and establishment of more diagnoses with improved molecular techniques would be provided by the ongoing collection of clinical data on this population.

Methods

• From 1995 to 2016, a retrospective chart review was performed of patients diagnosed with DSD conditions using ICD9 codes.
• For the purpose of this study, researchers limited the review to individuals assessed to have neonatal “ambiguous genitalia” or “indeterminate sex.”

Results

• From 22 years of experience, researchers identified 128 patients evaluated for ambiguous genitalia.
• As per findings, approximately half of these (53%) had 46, XY karyotype, 35% had 46,XX, and the remaining 12% had sex chromosome aberrations.
• In this study, diagnostic rate for 46, XX DSD was higher at 64%, all of which were congenital adrenal hyperplasia, while diagnostic rate for 46, XY DSD was 11.7% for a molecularly confirmed diagnosis and 24% if clinical diagnoses were included.
• Observations revealed cardiac anomalies in 28/128 (22%), skeletal anomalies in 19/128 (15%), and failure to thrive or growth problems in 19/128 (15%).
• In 53 out of 128 patients (41%), they found additional congenital anomalies.
• They identified 3 reported neoplasms in this group: gonadoblastoma, hepatoblastoma, and myelodysplastic syndrome with monosomy 7.
• In approximately 90% of XX and XY patients, gender assignment was consistent with chromosomes.
• Three recorded gender reassignments or transitions were noticed.