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Frontiers in Genetics 2022Unlike gonochoristic fishes, sex is fixed after gonadal differentiation (primary sex determination), and sex can be altered in adults (secondary sex determination) of...
Unlike gonochoristic fishes, sex is fixed after gonadal differentiation (primary sex determination), and sex can be altered in adults (secondary sex determination) of hermaphroditic fish species. The secondary sex determination of hermaphroditic fish has focused on the differences between testicular tissue and ovarian tissue during the sex change process. However, comprehensive studies analyzing ovarian tissue or testicular tissue independently have not been performed. Hermaphroditic black porgy shows a digonic gonad (ovarian tissue with testicular tissue separated by connective tissue). Protandrous black porgy has stable maleness during the first two reproductive cycles (<2 years old), and approximately 50% enter femaleness (natural sex change) during the third reproductive cycle. Precocious femaleness is rarely observed in the estradiol-17β (E)-induced female phase (oocytes maintained at the primary oocyte stage), and a reversible female-to-male sex change is found after E is withdrawn in <2-year-old fish. However, precocious femaleness (oocytes entering the vitellogenic oocyte stage) is observed in testis-removed fish in <2-year-old fish. We used this characteristic to study secondary sex determination (femaleness) in ovarian tissue transcriptomic analysis. Cell proliferation analysis showed that BrdU (5-bromo-2'-deoxyuridine)-incorporated germline cells were significantly increased in the testis-removed fish (female) compared to the control (sham) fish (male) during the nonspawning season (2 months after surgery). qPCR analysis showed that there were no differences in pituitary-releasing hormones ( and ) in pituitary and ovarian steroidogenesis-related factors (, , , and ) or female-related genes (, , , , and ) in ovarian tissues between intact and testis-removed fish (2 months after surgery). Low expression of pituitary and ovarian was found after 2 months of surgery. However, we did find small numbers of genes (289 genes) showing sexual fate dimorphic expression in both groups by transcriptomic analysis (1 month after surgery). The expression profiles of these differentially expressed genes were further examined by qPCR. Our present work identified several candidate genes in ovarian tissue that may be involved in the early period of secondary sex determination (femaleness) in black porgy. The data confirmed our previous suggestion that testicular tissue plays an important role in secondary sex determination in protandrous black porgy.
PubMed: 35401660
DOI: 10.3389/fgene.2022.816955 -
Scientific Reports Mar 2022Fish are amongst vertebrates the group with the highest diversity of known sex-determining genes. Particularly, the genus Oryzias is a suitable taxon to understand how...
Fish are amongst vertebrates the group with the highest diversity of known sex-determining genes. Particularly, the genus Oryzias is a suitable taxon to understand how different sex determination genetic networks evolved in closely related species. Two closely related species, O. latipes and O. curvinotus, do not only share the same XX/XY sex chromosome system, but also the same male sex-determining gene, dmrt1bY. We performed whole mRNA transcriptomes and morphology analyses of the gonads of hybrids resulting from reciprocal crosses between O. latipes and O. curvinotus. XY male hybrids, presenting meiotic arrest and no production of sperm were sterile, and about 30% of the XY hybrids underwent male-to-female sex reversal. Both XX and XY hybrid females exhibited reduced fertility and developed ovotestis while aging. Transcriptome data showed that male-related genes are upregulated in the XX and XY female hybrids. The transcriptomes of both types of female and of the male gonads are characterized by upregulation of meiosis and germ cell differentiation genes. Differences in the parental species in the downstream pathways of sexual development could explain sex reversal, sterility, and the development of intersex gonads in the hybrids. We hypothesize that male-to-female sex reversal may be connected to a different development time between species at which dmrt1bY expression starts. Our results provide molecular clues for the proximate mechanisms of hybrid incompatibility and Haldane's rule.
Topics: Animals; Female; Gonads; Male; Oryzias; Sex Chromosomes; Sex Determination Processes; Testis
PubMed: 35354874
DOI: 10.1038/s41598-022-09314-6 -
Differentiation; Research in Biological... 2023Ovotesticular syndrome is a rare disorder of sex development characterized by the presence of testicular and ovarian tissue. The histologic characteristics of human...
Ovotesticular syndrome is a rare disorder of sex development characterized by the presence of testicular and ovarian tissue. The histologic characteristics of human testicular tissue are well defined by the presence of seminiferous cords or tubules containing TSPY-positive germ cells and Sox9-positive Sertoli cells surrounded by interstitial tissue containing cytochrome P450-positive Leydig cells and smooth muscle α-actin-positive peritubular myoid cells. The histological characteristics of the ovary can be defined by germ cell nests and the development of follicles. In contrast to the testis, the ovary has a paucity of defined specific protein markers, with the granulosa cell marker FOXL2 being the most widely used. In practice, defining the ovarian component of the ovotestis can be quite difficult. We developed a model of human ovotesticular syndrome by combining fetal human testis and ovary in a xenograft model. Ovotesticular xenografts were grown under the renal capsules of gonadectomized athymic nude mice for 6-32 weeks along with age matched control grafts of fetal testis and ovary. Forty ovotesticular xenografts and their controls were analyzed by histology, immunohistochemistry, and fluorescent in situ hybridization to determine the protein expression and karyotype of the cells within the grafts. The ovotesticular xenografts exhibited recognizable testicular and ovarian tissue based on testis-specific and ovary-specific markers defined above. The xenografts simulated a bipolar ovotestis in which the testicular and ovarian elements retain their separate histological characteristics and are separated by a well-defined border. This contrasts with the compartmentalized ovotestis previously described in the literature where the testicular tissue is surrounded by ovarian tissue or a mixed histology where testicular and ovarian tissues are interspersed throughout the gonad. In conclusion, we have characterized a human model of ovotestis which will allow a deeper understanding of ovotestis development in humans and facilitate a more accurate diagnosis of the ovotesticular syndrome.
Topics: Female; Animals; Mice; Humans; Male; Testis; Mice, Nude; In Situ Hybridization, Fluorescence; Gonads; Ovary; Ovotesticular Disorders of Sex Development
PubMed: 35164980
DOI: 10.1016/j.diff.2021.12.003 -
Journal of Nippon Medical School =... May 2023On the basis of postoperative histopathological findings, a 29-year-old nulliparous woman was diagnosed as having ovotesticular disorder of sex development (DSD). She...
On the basis of postoperative histopathological findings, a 29-year-old nulliparous woman was diagnosed as having ovotesticular disorder of sex development (DSD). She had undergone unilateral gonadectomy at age 6 years and vulvoplasty and vaginoplasty at age 8 years. Her karyotype was 46, XX. She had dyspareunia because of a narrow vagina, but her uterus and left gonad were normal. Spontaneous ovulation was confirmed, but sexual intercourse was impossible because of dyspareunia, despite vaginal self-dilatation with a vaginal dilator. Artificial insemination was initiated; however, five cycles failed to yield a viable pregnancy. We decided to perform in vitro fertilization (IVF), which resulted in conception. During IVF we administered intravenous anesthesia before oocyte collection to reduce her distress due to insufficient lumen expansion after vaginoplasty. The patient delivered a healthy male infant weighing 2,558 g at 37 weeks of gestation via cesarean section, which was performed because of gestational hypertension. This is the eighth report of a viable neonate born from a patient with ovotesticular DSD after gonadectomy and the first such pregnancy achieved by IVF. Therefore, IVF may be an effective option for infertile patients with ovotesticular DSD. Additionally, to prevent dyspareunia, self-management of the plastic vagina is important during the peri- and postoperative periods of early vaginoplasty.
Topics: Pregnancy; Humans; Male; Female; Ovotesticular Disorders of Sex Development; Cesarean Section; Coitus; Dyspareunia; Fertilization in Vitro
PubMed: 35082211
DOI: 10.1272/jnms.JNMS.2023_90-202 -
Annales D'endocrinologie Feb 2022
Topics: Humans; Magnetic Resonance Imaging; Male; Middle Aged; Ovotesticular Disorders of Sex Development; Sexual Development
PubMed: 34896341
DOI: 10.1016/j.ando.2021.11.011 -
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 -
Bulletin of Environmental Contamination... Apr 2022This study aimed to investigate the testicular function of Mugil cephalus that inhabit Wadi El-Rayan lakes. Testes of fish inhabiting the upper lake (site 2) and the...
This study aimed to investigate the testicular function of Mugil cephalus that inhabit Wadi El-Rayan lakes. Testes of fish inhabiting the upper lake (site 2) and the lower lake (site 3) of Wadi El-Rayan showed significant decreases in gonadosomatic index, high accumulation levels of six metals, and eight organochlorine pesticide residues. Compared to reference fish, high percentages of histological alterations as testicular degeneration, germ cell reduction, testicular inflammation, vacuolization, and loss of tubular arrangement were observed in sites 2 and 3. Moreover, endocrine disruption signs were recorded based on the percentage of ovotestis appearance and the ovotestis severity index values. The maximum defective testicular antioxidant mechanisms were recorded in site 3 as indicated by sharp decreases in catalase, superoxide dismutase, glutathione reduced levels, and high thiobarbituric acid reactive substances. Finally, long-term exposure to Wadi El-Rayan water may impair the reproductive health of fish via testicular oxidative damage and endocrine disruption.
Topics: Animals; Environmental Monitoring; Lakes; Male; Oxidative Stress; Testis; Water; Water Pollutants, Chemical
PubMed: 34797380
DOI: 10.1007/s00128-021-03406-1 -
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 -
Cureus Oct 2021Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. Ovotesticular...
Disorders of sex development (DSD) are a group of congenital conditions associated with anomalous development of internal and external genital organs. Ovotesticular disorder of sex development (OT-DSD) is a condition in which a child is born with both testicular tissue (that possesses variable fertility potential within seminiferous tubules) and ovarian tissue (with primordial follicles). These tissues may be co-existent in the same gonad (ovotestis) or independently in separate gonads. Here, we report the clinical case of a 21-month-old boy that we met during a humanitarian surgical mission performed at Hospital Dr. Francisco Moscoso Puello, Santo Domingo, Dominican Republic. The child was referred for management of hypospadias, cryptorchidism, and symptomatic right inguinal and umbilical hernias. With further chromosomal evaluation, the diagnosis of SRY-negative OT-DSD was made, and shared decision-making was used to determine the timing of gender assignment, reconstruction, and the child's long-term care team. OT-DSD is an uncommon condition with unclear causes. Once a DSD condition is suspected at birth, a complete investigation should be performed, encompassing a descriptive examination, a basic electrolyte and hormonal profile, genetic assessment, and pelvic ultrasound. Consultation with a multidisciplinary team is warranted, including pediatric urology or pediatric surgery with urologic training, endocrinology, genetics, psychology, pathology, and the patient's pediatrician at minimum before surgical reconstruction. It is crucial to involve the patient and their family with shared decision-making before surgery or gender assignment.
PubMed: 34692261
DOI: 10.7759/cureus.18512 -
Theriogenology Dec 2021The dead end gene has been identified as a essential factor for Primordial germ cells (PGCs) migration and survival in many species, but its role in Monopterus albus is...
The dead end gene has been identified as a essential factor for Primordial germ cells (PGCs) migration and survival in many species, but its role in Monopterus albus is unclear. In order to clarify the function of dead end gene in M.albus PGCs migration and survival, we first characterized the expression profile of M.albus dead end (Madnd) in developing embryos and various tissues. qRT-PCR revealed that Madnd transcripts were exclusively detected in gonad, including ovary, testis and ovotestis.Embryos injected with a Madnd morpholino (Madnd-MO) exhibited down-regulation of the vasa gene. Furthermore, the GFP signal show the PGCs migration in control group were injected with GFP-nanos3 3'-UTR mRNA for visualization, as described in a previous study, yet it was disappeared after embryos injected with Madnd-MO.Finally, we characterized the genomics sequence of the Madnd gene and designed five gRNAs for genome editing. Three gRNAs were selected for microinjection according to the results of in vitro tests. gRNAd1 was used for microinjection with the Cas9 protein and was confirmed to be effective. Our analysis in this study suggested that Madnd play a key role in PGCs migration and survival in M. albus. These data provide the basis for the production of fast-growing and reproductively M.albus sterile.
Topics: Animals; Cell Survival; Eels; Female; Germ Cells; Gonads; Male; Smegmamorpha
PubMed: 34624813
DOI: 10.1016/j.theriogenology.2021.09.036