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Urology Mar 2022Ovotesticular disorder is a rare form of sexual development in which a patient may have one ovary and one testis, or more commonly a gonad or gonads containing both...
Ovotesticular disorder is a rare form of sexual development in which a patient may have one ovary and one testis, or more commonly a gonad or gonads containing both ovarian and testicular tissue. Patients with this condition typically present in infancy with ambiguous genitalia. Delayed presentations of clinically symptomatic, older patients with normal external genitalia are extremely rare. We present a case of a 14-year-old male with normal external genitalia who presented with symptoms and signs consistent with spermatic cord torsion but found to have ovotesticular disorder on evaluation.
Topics: Adolescent; Disorders of Sex Development; Female; Gonads; Humans; Male; Ovary; Spermatic Cord Torsion; Testis
PubMed: 34852247
DOI: 10.1016/j.urology.2021.11.021 -
Ecotoxicology and Environmental Safety Oct 2021Endocrine disrupting chemicals (EDCs) including 17β-estradiol (E2) are widely distributed in the aquatic environment and are known to negatively affect the reproductive...
Endocrine disrupting chemicals (EDCs) including 17β-estradiol (E2) are widely distributed in the aquatic environment and are known to negatively affect the reproductive system of many animals, including fish. EDCs leading to feminization, altered sex ratio and reduced fecundity, it is possibly posing potential risks to the ecosystems. To investigate the potentially toxic effects of E2 exposure on little yellow croaker (Larimichthys polyactis, L. poliactis) who have a unique gonadal development pattern that males undergo a hermaphroditic stage. An experiment was set up where L. poliactis were maintained in tanks and exposed to E2 concentrations of 10 μg/L or no E2 exposure (the ethanol and control groups) from 30 to 90 days post-hatching (dph). After exposure, the E2 withdrawal and continual cultured to 150 and 365 dph. The morphological and histological analyses were used to compare the changes in the fish body and gonad under E2 exposure. The results showed that E2 exposure caused three major phenotypes at 30 and 60 days after treatment (dat), including ovary, ovotestis and gonadal development retardation compared with the control groups. The average ratio of these three phenotypes is 60.6%, 11.97% and 27.43%, respectively. The body length and weight of E2 exposure groups were repressed during the E2 exposure period, while it can recover after E2 withdrawal. However, the gonadal development (Gonadosomatic Index) of E2 exposure groups testis were retarded at 60 dat and doesn't recover until 365 dph. The sex determination/differentiation-related genes erα, erβI, erβII, fshβ and cyp11b2 were significantly decreased in E2-exposure male fish. This research highlights the E2 leads to feminization, disrupts testis maturation and spermatogenesis, this effect persisted into the stage of sexual maturity. Collectively, our findings provide insights into the molecular mechanisms underlying E2 disturbance of a marine economic fish reproduction.
Topics: Animals; Ecosystem; Estradiol; Estrogens; Female; Gonads; Male; Perciformes
PubMed: 34217113
DOI: 10.1016/j.ecoenv.2021.112462 -
Biology of Reproduction Jun 2023Sea urchins are usually gonochoristic, with all of their five gonads either testes or ovaries. Here, we report an unusual case of hermaphroditism in the purple sea...
Sea urchins are usually gonochoristic, with all of their five gonads either testes or ovaries. Here, we report an unusual case of hermaphroditism in the purple sea urchin, Strongylocentrotus purpuratus. The hermaphrodite is self-fertile, and one of the gonads is an ovotestis; it is largely an ovary with a small segment containing fully mature sperm. Molecular analysis demonstrated that each gonad producedviable gametes, and we identified for the first time a somatic sex-specific marker in this phylum: Doublesex and mab-3 related transcription factor 1 (DMRT1). This finding also enabled us to analyze the somatic tissues of the hermaphrodite, and we found that the oral tissues (including gut) were out of register with the aboral tissues (including tube feet) enabling a genetic lineage analysis. Results from this study support a genetic basis of sex determination in sea urchins, the viability of hermaphroditism, and distinguish gonad determination from somatic tissue organization in the adult.
Topics: Animals; Female; Adult; Male; Humans; Strongylocentrotus purpuratus; Semen; Sea Urchins; Gonads; Disorders of Sex Development
PubMed: 36943312
DOI: 10.1093/biolre/ioad036 -
Cureus Jun 2023A case is reported herein of a true hermaphrodite (TH) with an ovotestis, a uterus, a vagina, and an underdeveloped phallus. The patient was raised by his parents as a...
A case is reported herein of a true hermaphrodite (TH) with an ovotestis, a uterus, a vagina, and an underdeveloped phallus. The patient was raised by his parents as a male, based on the presence of a phallus with ambiguous genitalia. He started experiencing breast enlargement at the age of 14 and menarche by the age of 17. He was reviewed using ultrasound, magnetic resonance imaging of the abdomen, and karyotyping, and the reports showed evidence of Mullerian structures and 46 XX karyotyping. Based on the preferences of the patient and his parents and their psychological outlook toward the male gender, a total mastectomy, hysterectomy, bilateral gonadectomy, and total vaginectomy were performed. This was followed by reconstruction of the male genitalia and supplemented with male hormone replacement therapy. Accordingly, a TH was assigned a male gender.
PubMed: 37425607
DOI: 10.7759/cureus.40104 -
Journal of Fish Biology Dec 2023Some teleost fishes change their sex, and some of these fishes have specific gonads known as "ovotestes," that is, gonads containing both ovarian and testicular tissues....
Some teleost fishes change their sex, and some of these fishes have specific gonads known as "ovotestes," that is, gonads containing both ovarian and testicular tissues. In this study, we revealed the gonadal transformation process and cell dynamics during the female-to-male sex change in the harlequin sandsmelt, Parapercis pulchella (Pinguipetidae), in which females possess ovotestes. Histological observations revealed that although female ovotestes were composed of oocytes, a few cysts of male germ cells were observed among them. At the initial phase of sex change, male germ cells increased, and spermatogenesis proceeded. After that, oocytes decreased and finally disappeared, and the gonads became functional testes. Immunohistochemistry using antibodies against Pcna (proliferating cell nuclear antigen) as a cell proliferation marker revealed that spermatogonia were Pcna positive, whereas spermatocytes were negative, in female ovotestes. This suggests that spermatogenesis is arrested at the spermatocyte stage. In addition, some somatic cells surrounding oocytes, which were thought to be the female follicle cells, were Pcna positive during sex change, indicating that these cells proliferate during sex change and are reused in male testes after sex change. Also, immunostaining using antibodies against active cleaved-Caspase3a as an apoptosis marker demonstrated that oocytes degenerated through apoptotic cell death at the late transition stage. Together with previous findings in other fishes, these findings suggested that the histological processes in gonads during sex change, such as the order of developmental events, developmental fates of ovarian cavities, and ovotestis structures, are diversified among fish species. In contrast, cellular dynamics of female germ and somatic cells during sex change are common among protogynous species.
Topics: Male; Female; Animals; Proliferating Cell Nuclear Antigen; Gonads; Ovary; Fishes; Testis; Spermatogonia
PubMed: 37621220
DOI: 10.1111/jfb.15534 -
Pediatric Endocrinology Reviews : PER Dec 2019Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and... (Review)
Review
Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and ovarian tissue in the same individual. Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved. Stemming from this case, we review the clinical presentation of OT-DSD throughout ages, the role of genetics and risk for gonadal tumors when making decisions about prophylactic gonadectomy. Finally, we summarize the most recent information of the spontaneous endocrine function, with or without conservative therapy, and fertility potential of people with OT-DSD.
Topics: Female; Humans; Infant; Male; Ovotesticular Disorders of Sex Development; Sexual Development; Testicular Diseases
PubMed: 31763803
DOI: 10.17458/per.vol17.2019.kmv.endocrineovotesticulardsd -
Proceedings (Baylor University. Medical... 2021Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development. Also known as 45XO/46XY mosaicism, MGD is characterized by highly variable sexual phenotypes and...
Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development. Also known as 45XO/46XY mosaicism, MGD is characterized by highly variable sexual phenotypes and an increased risk of gonadal malignancy. Patients with MGD often have a unilateral descended gonad and contralaterally either a streak gonad or no gonad. We present the case of a patient with a dysgenetic, nonpalpable gonad with imaging features of an ovotestis. These imaging features are generally more indicative of ovotesticular disorder of sexual development (previously true hermaphrodite), which is a condition with low risk of gonadal malignancy. Further evaluation with histology and genetic analysis confirmed the diagnosis of MGD. It is important to diagnose MGD to allow for early operative intervention and screening for malignancy.
PubMed: 34733008
DOI: 10.1080/08998280.2021.1951052 -
Biology of Sex Differences Dec 2022Monopterus albus is a hermaphroditic and economically farmed fish that undergoes sex reversal from ovary to testis via ovotestis during gonadal development. The...
Integrated chromatin accessibility and DNA methylation analysis to reveal the critical epigenetic modification and regulatory mechanism in gonadal differentiation of the sequentially hermaphroditic fish, Monopterus albus.
BACKGROUND
Monopterus albus is a hermaphroditic and economically farmed fish that undergoes sex reversal from ovary to testis via ovotestis during gonadal development. The epigenetic changes that are associated with gonadal development in this species remain unclear.
METHODS
We produced DNA methylome, transcriptome, and chromatin accessibility maps of the key stages of gonad development: ovary, ovotestis, and testis. The expression of the key candidate genes was detected using qRT-PCR and in situ hybridization and the methylation levels were analysed using bisulphite sequencing PCR. Promoter activity and regulation were assessed using dual-luciferase reporter assays.
RESULTS
Gonadal development exhibits highly dynamic transcriptomic, DNA methylation, and chromatin accessibility changes. We found that DNA methylation status, especially of the transcription start site, was significantly negatively correlated with gene expression while chromatin accessibility exhibited no correlation with gene expression during gonadal development. The epigenetic signatures revealed many novel regulatory elements and genes involved in sex reversal, which were validated. DNA methylation detection and site mutation of plastin-2 promoter, as a candidate gene, revealed that DNA methylation could impact the binding of transcription factor dmrt1 and foxl2 through methylation and demethylation to regulate plastin-2 expression during gonadal development.
CONCLUSIONS
These data provide novel insights into epigenetic modification and help elucidate the potential molecular mechanism by which dynamic modification of DNA methylation plays a crucial role in gonadal development.
Topics: Male; Animals; Female; DNA Methylation; Chromatin; Gonads; Ovary; Epigenesis, Genetic
PubMed: 36539889
DOI: 10.1186/s13293-022-00484-6 -
Fish Physiology and Biochemistry Oct 2021Pearlscale angelfish Centropyge vrolikii is a kind of protogynous hermaphrodite fish with a natural sexual reversion. Under appropriate social conditions, a female fish...
Pearlscale angelfish Centropyge vrolikii is a kind of protogynous hermaphrodite fish with a natural sexual reversion. Under appropriate social conditions, a female fish can transform into a male fish spontaneously. It is an important prerequisite for artificial breeding to understand the process of its gonadal development and sexual reversion. Gonadal development is regulated by many sex-related genes. In this study, we used unreferenced RNA-Seq technology to sequence the ovary at the perinucleolus stage (O), ovary at the yolk vesicle stage (O),IV and testis (T), respectively; screened the gonadal differential expression genes (DEGs); and analyzed the expression of these genes in different developmental stages of ovary and different sex gonads. The results showed that a total of 142,589 all-unigene samples were assembled, and gene annotation was performed by COG, GO, KEGG, KOG, Pfam, Swissprot, eggNOG, and NR functional database. Comparative analysis revealed that there were 1919 genes that were up-regulated and 1289 genes were down-regulated in comparison to O vs O, while there were 3653 genes that were up-regulated and 2874 genes were down-regulated in comparison of O vs T, there were 3345 genes that were up-regulated and 2995 genes were down-regulated in comparison of the O vs the T. At the same time, the results verified by RT-qPCR were consistent with the variation trend of transcriptome data. Among the results, amh, sox9b, dmrt1, dmrt2, cyp11a, cyp17a, and cyp19a were significantly expressed in the testes, while sox3, sox4, sox11, sox17, and hsd3b7 were significantly expressed in the ovaries. And, the expression of the amh, sox9b, dmrt2, and dmrt1 were low in the O and O, while significantly increased during the ovotestis in the hermaphroditic period (O), and finally reached the highest level in pure testis after sex reversal. The expression of sox3, sox4, hsd3b7, sox11, and sox17 was significantly reduced during the hermaphroditic period (O). These results suggested that these genes may play an important role in the process of sex reversal. This study is helpful to further understand the molecular regulation mechanism of gonadal development and sexual reversion in Pearlscale angelfish and also provide important clues for future studies.
Topics: Animals; Female; Fishes; Gene Expression Profiling; Gene Expression Regulation, Developmental; Gonads; Male; Ovary; Perciformes; RNA-Seq; Testis
PubMed: 34415453
DOI: 10.1007/s10695-021-00977-y -
BMC Women's Health Oct 2023Ovotestis is a rare cause of sexual ambiguity characterized by the presence in a patient of both testicular and ovarian tissue, leading to the development of both male... (Review)
Review
INTRODUCTION
Ovotestis is a rare cause of sexual ambiguity characterized by the presence in a patient of both testicular and ovarian tissue, leading to the development of both male and female structures. We report a case of ovotestis diagnosed in an adolescent, with a review of the literature.
CASE REPORT
A 15-year-old patient presented with a right scrotal swelling associated with gynecomastia. Histology showed a juxtaposition of ovarian stroma with ovarian follicle and seminiferous tubules. Karyotype revealed a male subject (XY). We have therefore retained the diagnosis of ovotesticular disorders of sex development.
CONCLUSION
Ovotestis is a rare finding, heterogeneous in its genetic etiology and clinical presentation. While many patients are diagnosed during infancy or childhood, we presented a case diagnosed in a 15-year-old adolescent.
Topics: Adolescent; Female; Humans; Male; Karyotype; Ovary; Ovotesticular Disorders of Sex Development
PubMed: 37875919
DOI: 10.1186/s12905-023-02698-1