Long-term outcome of ovotesticular disorder of sex development: a single center experience.
OBJECTIVE
To describe the clinical features of children with ovotesticular disorder of sex development (DSD) and to review cases of ovotesticular DSD in Japan.


METHODS
Medical records of eight children diagnosed with ovotesticular DSD at our institute during the past 17 years were retrospectively evaluated. A review of 165 reported cases of ovotesticular DSD from Japanese institutions was carried out.


RESULTS
Mean follow up was 8.2 years for six children, with two children lost to follow up. Mean age at first presentation was 2.4 months. All children were Japanese. The most common initial manifestation was ambiguous genitalia. The female:male ratio as the sex of rearing was 1:1. Gender reassignment, from male to female, was carried out in one child at 4-months-old. Genital surgery was always carried out in early childhood as per family desire. Appropriate gonadal tissue was preserved except for one child. No gonadal tumors were detected during follow up. Spontaneous pubertal development occurred in one boy. In reviewing Japanese data, the frequency of testes was higher than in other ethnicities and this was related to the higher incidence of 46,XY.


CONCLUSIONS
According to our experience, most families in Japan desire early genital surgery in the case of ovotesticular DSD. Chromosomal and gonadal distributions in patients with ovotesticular DSD differ between Japanese and other ethnic groups. Treatment for these patients needs to be provided after considering the cultural and social backgrounds of DSD in Japan.
Department of Urology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan. f.matsui@mch.pref.osaka.jp
Futoshi
F
Matsui
Kenji
K
Shimada
Fumi
F
Matsumoto
Toshihiko
T
Itesako
Keigo
K
Nara
Shinobu
S
Ida
Masahiro
M
Nakayama
D044466:Asian People; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D050090:Ovotesticular Disorders of Sex Development / Q000235:genetics / Q000473:pathology / Q000628:therapy; D011627:Puberty; D012189:Retrospective Studies; D057829:Gender-Affirming Procedures; D013739:Testosterone / Q000097:blood; D016896:Treatment Outcome
D013739:Testosterone