Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series

Abstract

BackgroundThe aim of this study is to review and present the clinical features and process of evaluation and treatment for OT-DSD in a single center in recent years in China.MethodsSixteen patients with OT-DSD during the past 4 years underwent the evaluation and treatment in a single center. The clinical characteristics and outcomes of surgery were analyzed.ResultsThe surgical age ranged from 17 months to 66 months with a mean age of 20 months, and the mean follow-up was 30 months (4 months to 56 months). The presentation in 11 patients was ambiguous genitalia, and the rest 5 patients were suspected to have DSD in preoperative examination before hypospadias repair. The karyotypes were 46, XX in 11 patients, 46, XX/46, XY in 3, 46, XX/47, XXY in 1, and 46, XY in 1. Initial reared sex was male in 14 patients, female in 1, and undetermined in 1. After surgery, genders were reassigned in 3 patients, while 15 patients were raised as male with testicular tissue left. Only 1 patient with ovarian tissue left was raised as female. Repair was completed in 11 males and 1 female, and stage I urethroplasty was done in 4 males. No further surgery to remove the gonads was needed for inconsonance of gender assignment. No gonadal tumors were detected.ConclusionsOT-DSD is a rare and complex deformity with few systematic reports in China. It’s important to establish a regular algorithm for evaluation and treatment of OT-DSD.

Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

“…Unilateral and bilateral cryptorchidism were common at 65%. [5][6][7][8][9][10][11]14,15,18 Uterus was found in 79% (11/14) of the cases with male or ambiguous external genitalia (5 and 4). These uteri were bi or unicornuated and always possessed a fallopian tube on at least one side.…”

“…All patients with genital ambiguity had been raised as male with subsequent surgical removal of Mullerian structures and unilateral gonadectomy (►Table 1). [6][7][8][10][11][12][13][14][15] The data suggested that urogenital reconstructive surgery is necessary, therefore a multidisciplinary team approach should be activated as soon as possible, once the diagnosis of 46,XX/47,XXY is made. This can lead to appropriate presurgical intervention for the patients and families.…”

“…Clinical phenotypes and related findings of the present case and 18 additional patients identified from the literature during 1969 to 2019 were analyzed, as shown in ►Table 1. [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] The age of presentation ranged from prenatal stage to 62 years. All but two patients were raised as male.…”

A long-term follow-up of Sex Chromosomal Mosaicism Disorders of Sex Development

“…5 The production of ovarian steroids can also suppress expression of gonadotropins in testicular tissue via a negative feedback effect, resulting in tubular atrophy, poor germ cell development, Leydig cell hyperplasia, and sclerosis that finally causes degeneration of the testicular tissue. 15 As the testosterone production may decline to inadequate levels because of the testicular regression, the consideration of substitutive hormonal treatment should be initiated. 14 An infant born with ambiguous external genitalia presents a major challenge, not only for establishing the diagnosis but also the complexities surrounding any decision about gender assignment.…”

Partial gonadal dysgenesis associated with a pathogenic variant ofPBX1transcription factor

“…The differential diagnosis for our patient included ovotesticular disorder of sex development which is defined by the presence of testicular tissue with seminiferous tubules and ovarian tissue with primordial follicles in the same individual 6. However, the absence of ovarian tissue as it was measured by undetectable oestrogen levels after β-hCG stimulation suggests that the abdominal gonad was a streak gonad and therefore the patient could not be classified as having ovotesticular DSD.…”