ESPE Abstracts (2014) 82 P-D-3-3-805

The Genotypic and Phenotypic Variability of Mixed Gonadal Dysgenesis

Chelsey Grimbly, Robert Couch & Rose Girgis


Department of Pediatrics, University of Alberta, Alberta, Edmonton, Canada


Background: Mixed gonadal dysgenesis is most commonly associated with 45,XO/46,XY karyotype.

Objective and hypotheses: We report three cases that illustrate the genotype and phenotype variability of mixed gonadal dysgenesis.

Methods: Data was extracted from Pediatric Endocrinology charts in a tertiary care centre after consenting the parents.

Results: i) A 13 year old patient, 45,XO/46,X, isodicentric Y chromosome, was diagnosed antenatally by amniocentesis for advanced maternal age. He has normal male external genitalia. He is followed for short stature responsive to GH. He had spontaneous puberty, currently Tanner stage 3. He has behavioural problems including conduct disorder, aggression, and learning difficulties. ii) A 3-year-old patient presented at birth with hypospadias, 2.5 cm phallus, bifid scrotum and left cryptorchidism. The right testis is located in the bifid scrotum. Pelvic ultrasound revealed a persistent uterine structure. He underwent hernia repair and an inguinal gonad was removed. Pathology showed no ovarian stroma and was consistent with a rete testis. Karyotype is 45,XO/46,XY and the child is raised as a boy. iii) A 17 year old phenotypic female presented with delayed puberty, subtle Turner syndrome features, normal stature, and was found to have primary gonadal failure. She has cerebral palsy and developmental delay. Her karyotype was complex and consisted of 46,XY with isodicentric Y chromosome (90%), 47,XYY with two isodicentric Y chromosomes (4%), and 45,XO (4%) despite her father’s normal 46,XY karyotype. She underwent gonadectomy bilaterally. The pathology report to rule out gonadoblastoma is pending.

Conclusion: Mixed gonadal dysgenesis has a wide spectrum of clinical presentations and needs to be managed on a case-by-case basis. This includes karyotype, monitoring of growth and puberty, and assessment for pelvic structures with surveillance for gonadal pathology.

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