Diagnosis and management of ovotesticular disorders of sex development: a single-center clinical study

Objective To summarize the clinical characteristics, diagnosis and treatment of ovotesticular disorders of sex development (DSD). Methods Retrospective analyses were conducted for 32 hospitalized patients of ovotesticular DSD from 1993 to 2015.Social gender: 30 cases were raised as males while another 2 as females.12.5% with female appearance, mammary development, unclear genital appearance and clitoris with a length of 1-3 cm.87.5% with male appearance, poor phallic development and severe hypospadias.Scrotums were shaped like labia while 46.88% (15/32) had undescended testis.Karyotype: The number of 46, XX ovotesticular DSD was 11.There were 1 case of 46, XY and 20 cases of sex chromosome DSD (mosaic 46XY/46XX, n=6; mixed, n=14). Results Routine ultrasound and excretory urography were conducted in 11 cases and the detecting ratio was 100%(11/11). Genetic screening of SYR gene was performed in 5 cases.There were 45X ovotesticular (n=1) and 45X/46Y DSD+ (n=1), 45X/46XY- (n=1) and 50%(1/2) of 46XX ovotesticular DSD was screened positive.Among 64 individual glands, there were ovotesticular (n=16), testes (n=25) and ovary (n=23). Exploration of gonads revealed bilateral ovotestis (n=5), ovotestis plus ovary or testis (n=6), unilateral ovary & contralateral testis (n=21). Thirty males underwent penile straightening and urethra reconstruction.And 29 of them were followed up for 8 months to 9 years.Three cases had recurrent urinary fistula, with poor development of penis and testis and poor quality-of-life.Meatus urinarius was present at coronary sulcus or penis body (n=4) and breast development occurred after puberty (n=3). The others achieved a better prognosis of penis 2.5-4.0 cm long and smaller testis.Two females (2/32) underwent clitoris orthopedic surgery with good cosmetics.One case was adolescent while another case received estrogen and obtained satisfactory genital morphology and breast development. Conclusions The role of operation is ill-defined after a definite diagnosis of ovotesticular DSD.Psychological changes during growth should be primarily considered for choosing gonadal resection or reconstruction.In conjunctions with hormonal levels, superior gonadal assessment may guide the final choice.And subsequent hormonal therapy is needed. Key words: Disorders of sex development; Diagnosis; Therapy