Unraveling mixed gonadal dysgenesis

challenges in prenatal diagnosis and clinical management

Abstract

OBJECTIVE: The aim of this study is to report a case of mixed gonadal dysgenesis (MGD) diagnosed during pregnancy, highlighting the importance of prenatal diagnosis, clinical management, and genetic counseling. CASE REPORT: The patient was a 20-year-old woman referred due to a fetal ultrasound showing evidence of renal abnormalities. At the 30-week ultrasound, a dysplastic right kidney with multiple cysts and ambiguous genitalia suggestive of a disorder of sexual development was observed. Fetal magnetic resonance imaging (MRI) revealed a dysplastic kidney with multiple cysts. There was an image suggestive of a hypoplastic scrotum and an undefined genital tubercle. The fetal karyotype showed a chromosomal constitution of mosaicism 45,X[28]/46,XY[2], consistent with the diagnosis of MGD. On neonatal clinical examination of the genitalia, there was a phallus measuring 3 cm with hypospadias but no urethral opening, and a palpable gonad in the left labioscrotal swelling. The right gonad was intra-abdominal, and the urethra opened into a wide urogenital sinus. Micrognathia, a single left palmar crease, clinodactyly of the fifth fingers, and hypoplastic nails were also observed. The abdominal ultrasound showed a right kidney with multiple cysts of varying sizes. DISCUSSION: MGD is a complex condition that can manifest in various ways. The discussed case highlights the importance of a multidisciplinary approach in the management of gonadal dysgenesis cases, considering not only aesthetic aspects but also the functionality and health of the patient. The choice of gender assignment should be made after careful evaluation and in collaboration with the parents, taking into account emotional and social implications. CONCLUSION: Early diagnosis and proper follow-up are crucial for the management of MGD. Collaboration between different medical specialties and the involvement of the parents in decision-making are essential to ensure appropriate and informed treatment. This case highlights the need for continuous support and careful planning for the child's future.