SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor

Osaka, Akiyoshi; Ide, Hisamitsu; Matsuoka, Katsuyoshi; Iwahata, Toshiyuki; Kobori, Yoshitomo; Ban, Shinichi; Okada, Hiroshi; Saito, Kazutaka

doi:10.1177/1557988320970071

Cited by 8 publications

(6 citation statements)

References 22 publications

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“…However, it is important to note that 46,XX patients without Y chromosome-associated fragments do not have a high risk of developing tumors. Carcavilla et al [ 4 ] reported a case of 46, XX(SRY +) male child with undifferentiated spermatogenic tumor of unknown genitalia and spermatogenic tubule, while Osaka et al [ 5 ] documented a rare case of 46,XX(SRY +) male patient with testicular Leydig cell tumor. The occurrence of this scenario can be attributed to two factors.…”

Section: Discussionmentioning

confidence: 99%

“…In the majority of cases, individuals with 46, XX DSD are caused by a translocation of a segment of the Y chromosome that carries the SRY gene during meiosis [ 3 ]. The presence of the SRY gene may increase the risk of developing gonadal tumors, specifically gonadal germ cell tumors [ 4 ] or testicular Leydig tumors [ 5 ]. However, there have been no reported cases of extragonadal germ cell tumors associated with this disease.…”

Section: Introductionmentioning

confidence: 99%

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46, XX disorder of sexual development associated with mixed germ cell tumor of the prostate: a rare case report

Wang,

Du,

Xiang

et al. 2024

BMC Urol

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Background Extragonadal germ cell tumors originating from the prostate are exceptionally rare. To the best of our knowledge, there have been no reported cases of mixed germ cell tumors in individuals with 46 XX disorder of sex development. In this study, we conducted a comprehensive analysis using whole genome sequencing to investigate the clinicopathological and molecular genetic characteristics of a submitted case, with the objective of elucidating its underlying pathogenesis. Case presentation A 40-year-old male patient was diagnosed with a combination of 46, XX disorder of sex development and a primary prostate mixed germ cell tumor with yolk sac tumor and teratoma components. Whole-genome sequencing revealed that the tumor cells had a high somatic mutational load. Analysis of genomic structural variations and copy number variants confirmed the patient's karyotype as 46, XX (SRY +). Additionally, the patient exhibited short stature, small bilateral testes, slightly enlarged breasts, elevated serum alpha-fetoprotein concentrations, elevated follicle-stimulating hormone and luteinizing hormone levels, and low testosterone levels. Discussion A case of 46, XX disorder of sex development, along with a primary prostatic mixed germ cell tumor, was diagnosed. This diagnosis has contributed to advancing our understanding of the genetic and phenotypic profile of the disease and may provide some insights for its treatment.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

46, XX disorder of sexual development associated with mixed germ cell tumor of the prostate: a rare case report

Wang,

Du,

Xiang

et al. 2024

BMC Urol

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“…Figures 2 and 3 show FISH analysis in two different cases with SRY negative [ 8 ] and positive [ 9 ] karyotype.…”

Section: Discussionmentioning

confidence: 99%

A Rare Presentation of Disorder of Sex Development

Ashfaq¹,

Siddiqui²,

Shafiq³

et al. 2021

Cureus

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Disorder of sex development (DSD) is the term ascribed to a wide group of disorders presenting with congenital discord between chromosomal sex and phenotypic manifestation. Its incidence is 1 in 4500 births. 46 XX testicular DSD is a rare disorder characterized by the discordance between female karyotype and male phenotype. Its incidence is 1:20,000 to 25,000 male infants. It is further classified into SRY positive and SRY negative individuals, depending on the presence or absence of sex-determining region Y gene (SRY) on the X chromosome as a result of translocation. We are hereby reporting a rare case of de la Chapelle syndrome (SRY negative). A 30-year-old phenotypical male presented to us with complaints of primary infertility. He had had hypospadias during his childhood and underwent corrective surgery at the age of 18 years. For the previous 1.5 years, he had been complaining of decreased libido, difficulty in micturition, and presence of watery ejaculate. On examination, he had bilateral palpable testis with the testicular volume of 7 mL each, curved micropenis with chordee, and eccentric meatus with fistula. Semen analysis revealed azoospermia and hormonal profile was consistent with hypergonadotropic hypogonadism. His karyotyping turned out to be 46 XX chromosome without the SRY gene on polymerase chain reaction (PCR) array. He was medically treated with testosterone and underwent surgical correction of chordee. The SRY negative testicular 46 XX disorder is a rare expression and can be diagnosed at the time of birth with the presence of severe hypospadias, cryptorchidism, or ambiguous genitalia. All new-borns with these findings should undergo evaluation for the disorder of sexual development. Such individuals can never father a child and genetic counseling should be offered. Infertility is the main concern for such individuals which can be addressed by in vitro fertilization (IVF) with a sperm donor or adoption.

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“…Nongerm cell tumors in gonads of patients with DSD are very rare. There are single reports of Leydig cell tumors in 46,XX patients with androgen excess caused by adrenal hyperplasia [ 10 ] and 46,XX DSD, testicular [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature

Gretser

Welte

Roos

et al. 2021

Case Reports in Pathology

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Disorder of sex development (DSD) is a rare condition with atypical development of chromosomal, gonadal, or anatomical sex. It is classified in different subgroups based on the patient’s karyotype, gonadal dysgenesis, and the appearance of the internal and external genitalia. Within the subgroups, the risk for developing neoplasms varies a lot. Here, we report the case of a 41-year-old patient with disorder of sex development, showing a 46,XX karyotype with an ovotestis and the simultaneous manifestation of a Leydig cell tumor in the ovotestis. The patient initially presented with infertility, and a suspicious lesion of the left testicle was noted on MRI-Scan. Upon resection, a Leydig cell tumor and an ovotestis were diagnosed. Nongerm call tumors are rare in patients with DSD. We report a nongerm cell tumor in a patient with 46,XX DSD, ovotesticular. This shows that although 46,XX DSD, ovotesticular is known to have a low potential for germ cell neoplasia, nongerm cell tumors can develop and should be into account for the management of those patients.

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SRY-Positive 46, XX Testicular Disorder of Sexual Development With Leydig Cell Tumor

Cited by 8 publications

References 22 publications

46, XX disorder of sexual development associated with mixed germ cell tumor of the prostate: a rare case report

46, XX disorder of sexual development associated with mixed germ cell tumor of the prostate: a rare case report

A Rare Presentation of Disorder of Sex Development

Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature

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