Ovotestis in Adolescence: 2 Case Reports

Chouhan, Jyoti D.; Chu, David I.; Birs, Antoinette; Pyle, Louise C.; Batavia, Jason P. Van; Linn, Rebecca L.; Back, Susan J.; Russo, Pierre; Darge, Kassa; Kolon, Thomas F.; Srinivasan, Arun K.

doi:10.1016/j.urology.2017.04.009

Cited by 8 publications

(13 citation statements)

References 9 publications

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“…Ovotesticular DSD is a rare finding with a heterogeneous spectrum concerning its genetic etiology, clinical presentation, and surgical findings [4]. In this retrospective review we have shown that the most common karyotype in our cohort was 46 XX, as it was reported previously in Africa and China [5,7].…”

Section: Discussionsupporting

confidence: 70%

Clinical Heterogenicity in Children with Ovotesticular Disorder of Sex Development: Experience at Children’s Hospital of Mexico Federico Gomez

Díaz¹,

Domínguez²,

Trejo³

2022

COR

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Introduction: DSD are congenital alterations in which either sexual chromosomes, gonadal or anatomical development are atypical. It is estimated that about 1 in every 4500 live births has some type of DSD, ovotesticular DSD representing around 3-10% of the cases. Given the rarity of DSD, it is an underexplored area, and little is known of ovotesticular DSD. Materials and Methods: A retrospective study on patients diagnosed with Ovotesticular DSD in a tertiary medical center from 2009 to 2018. The clinical presentation, phenotype, gonadal features, gender assignment and medical management were evaluated. Results: A total of 184 cases matched the initial search criteria. Only 9 patients with confirmed histopathological diagnosis were selected. Eight out of the nine cases evaluated presented ambiguous genitalia at birth, and only one was detected until pubertal age with presence of bilateral gynecomastia. A female 46 XX karyotype was reported in six patients, whereas the remaining three patients had mosaicism. Four patients were at pubertal age at the time of the study, and three of them required induction of puberty due to lack of sexual steroid production due to loss of gonadal organs. Discussion: Ovotesticular DSD is a rare finding with a heterogeneous spectrum concerning its genetic etiology, clinical presentation, and surgical findings. Most patients are diagnosed during infancy or childhood; few are diagnosed at pubertal age. Conclusion: Actual management and decision on gender assigning and treatment is challenging and debatable; therefore, a scrupulous clinical examination, as well as hormonal, imaging, genetic and molecular investigation is needed for a correct diagnosis. Further investigation is required to fully understand the disease.

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Section: Discussionsupporting

confidence: 70%

Clinical Heterogenicity in Children with Ovotesticular Disorder of Sex Development: Experience at Children’s Hospital of Mexico Federico Gomez

Díaz¹,

Domínguez²,

Trejo³

2022

COR

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“…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.…”

Section: Discussionmentioning

confidence: 99%

“…The left scrotal pain is explained by ruptured or unruptured hemorrhagic corpus luteal cysts during ovulation in the ovary or ovotestis. 10,13 The monthly cyclic hematuria is a result of menstrual blood from the uterus, passing through the cervix and vagina, urogenital sinus, and penile urethra. 15 In our review, we observed the occurrence of germ cell tumor at 18% (2/11) in adolescents and adult individuals, which is much higher than 1 in 4,000 reported among 47, XXY KS and 1 in 83,333 among the general population.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Clinical Presentations Genital Phenotypes Gonadal Histologmentioning

confidence: 99%

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

et al. 2020

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Most cases of Klinefelter syndrome (KS) have 47,XXY karyotype. We reported the first case of 46,XX/47,XXY KS whose genital ambiguity was detected prenatally with postnatal confirmation of the mosaicism and ovotesticular disorder of sex development (OT-DSD). The paternal origin of the extra X chromosome was identified using trio cytogenomic single-nucleotide polymorphism array. Additional 18 cases were also reviewed. The clinical presentation of 46,XX/47,XXY is age-dependent with two age peaks, including ambiguous genitalia during infancy and gynecomastia with or without cyclical hematuria and left scrotal pain and mass in adolescence. The 46,XX is the predominant karyotype both in peripheral blood and gonadal tissue. The risk of germ cell tumor is very high throughout life in these individuals. Individuals with 46,XX/47,XXY mosaicism should be treated more as OT-DSD other than a simple mosaic KS. A multidisciplinary approach and long-term monitoring are necessary.

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“…The 46,XX/47,XXY karyotype which was detected in an infant presenting with ambiguous genitalia (patient 10) is extremely rare and was reported with OT DSD in very few reports. The patients may present in adolescence with cyclic hematuria or gynecomastia or less commonly in infancy with ambiguous genitalia [Sircili et al, 2014;Talreja et al, 2015;Chouhan et al, 2017;Mao et al, 2017]. The development of testicular tissue in 46,XX individuals with absence of the SRY gene is explained by overexpression of genes involved in the cascade of testis determination due to duplications or gainof-function mutations.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review

Mekkawy

Kamel

Dessouky

et al. 2019

Sex Dev

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Ovotesticular difference of sex development (OT DSD) is a rare genetic disorder with an incidence of about 1/100,000 live births. The majority of OT DSD patients show a 46,XX karyotype, others may have 46,XX/46,XY chimerism or exhibit various mosaic sex chromosome combinations, and less commonly they may have a 46,XY karyotype. The aim of this work is to report the clinical, pathological, and karyotypic variations in OT DSD patients diagnosed among a large cohort of DSD patients. The study included 10 patients thoroughly evaluated for clinical, genital, and hormonal abnormalities and subjected to imaging studies, laparoscopy with gonadal biopsy, karyotype, and FISH analysis. The current study revealed a greater percentage of mosaic cell line combinations than previously reported and showed variable cytogenetic abnormalities, including the rare isodicentric (Y)(p11.32) abnormality and X;Y translocation. The study also revealed a unique pattern of gonadal type and combination frequencies. To our knowledge, this is the first study on OT DSD patients among a large cohort of DSD patients in Egypt and the Middle East.

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Ovotestis in Adolescence: 2 Case Reports

Cited by 8 publications

References 9 publications

Clinical Heterogenicity in Children with Ovotesticular Disorder of Sex Development: Experience at Children’s Hospital of Mexico Federico Gomez

Clinical Heterogenicity in Children with Ovotesticular Disorder of Sex Development: Experience at Children’s Hospital of Mexico Federico Gomez

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

Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review

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