A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance
Read time: 1 mins
Published:25th Mar 2020
Source: Fertility and Sterility
Objective: To describe and explore the current literature on the rare genetic condition of 46,XX SRY-negative males. In addition, we propose comprehensive clinical guidelines in the management of this condition to aid fertility clinicians in their management of affected individuals. Design: Case report with expert consensus–derived clinical management guidance. Setting: Fertility outpatient clinic at a tertiary referral center. Patient(s): A 40-year-old male found to have 46,XX disorder of sex development (DSD) on routine fertility screening. Intervention(s): A review of the literature, expert consultation, and formulation of comprehensive clinical guidance. Main Outcome Measure(s): We report an interesting and rare case of a phenotypical male with the karyotype 46,XX DSD without an SRY region. There is limited literature exploring this condition, and its etiology remains poorly understood. There is currently no clinical guidance available for fertility clinicians to follow when treating this condition. Result(s): A male phenotype with a 46 karyotype without the sex-defining region of the Y chromosome. Conclusion(s): A multidisciplinary approach should be adopted in the management of 46,XX individuals. All patients with azoospermia must be karyotyped. Sperm donation remains the only fertility treatment available. The 46,XX patients need lifelong followup led by an endocrinologist with regular imaging of the gonads, bone density measurements, baseline blood tests, and T supplementation. Psychological support is a key part of a holistic approach.