Abstract Book - 26th ESPU Congress, Joint Meeting with ICCS + SPU + AAP/SOU + AAPU + SFU

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16:35 - 16:38
S3-15 (CP)
OVOTESTICULAR DSD ASSOCIATED WITH 46,XX/46,XY TETRAGAMETIC
CHIMERISM
Katja P WOLFFENBUTTEL1, Yolande VAN BEVER2, Hennie T. BRÜGGENWIRTH2, Florijn VAN DER WINDT3, Eric BLOM2,
Sabine E. HANNEMA4, Annelies DE KLEIN2, Lambert C.J. DORSSERS5, Remco HERSMUS5 and Leendert H. LOOIJENGA5
1) Erasmus Medical Center, Department of Urology, Rotterdam, NETHERLANDS - 2) Erasmus Medical Center,
Department of Clinical Genetics, Rotterdam, NETHERLANDS - 3) Tergooi Hospitals, Department of Urology, Hilversum,
NETHERLANDS - 4) Erasmus Medical Center, Department of Pediatrics, Rotterdam, NETHERLANDS - 5) Erasmus Medical
Center, Department of Experimental Patho-Oncology, Rotterdam, NETHERLANDS
PURPOSE
OTDSD, the presence of both ovarian and testicular tissue, is an uncommon DSD diagnosis. Patients may present with
genital ambiguity and mostly have a 46,XX karyotype. We present a phenotypical male presenting with a painless right
scrotal mass. Pathology of the gonadectomy specimen showed ovotestis.
MATERIAL AND METHODS
His medical history was unremarkable, with the exception of gynecomastia since puberty at age 14 y. Physical
examination showed a male phenotype with gynecomastia, normal masculine external genitalia, left scrotal gonad and
empty right hemi-scrotum after recent gonadectomy. He had several striking irregular pigmentations. Initial ultrasound
study of the left scrotal gonad showed homogeneous testis tissue, but he developed a cystic mass in the upper part of
this gonad 6 weeks after presentation. Hormonal data, after right gonadectomy, were compatible with
hypergonadotropic state. Karyotyping in peripheral blood showed a 46,XX/46,XY pattern and FISH analysis of buccal
mucosa and ovarian and testicular tissue from the removed gonad was followed by SNP-array and profiling of patient
and parents.
RESULTS
Clinical and hormonal data were compatible with the presence of a contralateral, ovotestis in the left hemi-scrotum.
FISH studies confirmed the presence of XX and XY in leucocytes, buccal mucosa and gonadal tissues in varying
percentages. Profiling and Snip array showed extra alleles from both paternal and maternal origin.
CONCLUSIONS
Chimerism is a rare cause of OTDSD. Additional tests can discriminate between sex-chromosomal mosaicism and
chimerism. Pigmentation patterns or (asymmetric) gynecomastia after puberty can be the only clue.