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Parasites & Vectors Feb 2023Biomphalaria glabrata is one of the main intermediate hosts of Schistosoma mansoni, the most widespread species of Schistosoma. Our previous studies proved that...
BACKGROUND
Biomphalaria glabrata is one of the main intermediate hosts of Schistosoma mansoni, the most widespread species of Schistosoma. Our previous studies proved that alternative oxidase (AOX), the terminal oxidase in the mitochondrial respiratory chain, widely exists in several species of intermediate host snails of Schistosoma. Meanwhile, inhibition of AOX activity in Oncomelania hupensis snails could dramatically enhance the molluscicidal effect of niclosamide. As a hermaphroditic aquatic mollusc, the high fecundity and population density of B. glabrata increase the difficulty of snail control, which is one of the critical strategies for schistosomiasis elimination. The present study aimed to investigate the possible role of AOX in the development and fecundity of B. glabrata snail, which could be manipulated more manageable than other species of intermediate host snails of Schistosoma.
METHODS
The dynamic expression of the AOX gene was investigated in different developmental stages and tissues of B. glabrata, with morphological change and oviposition behaviour observed from juvenile to adult snails. Furtherly, dsRNA-mediated knockdown of BgAOX mRNA and the AOX protein activity inhibiting was performed to investigate the effect of AOX on the development and oviposition of snails.
RESULTS
The BgAOX gene expression profile is highly related to the development from late juveniles to adults, especially to the reproductive system of snails, with a positive correlation of 0.975 between egg production and BgAOX relative expression in ovotestis of snails. The inhibition of BgAOX at the transcriptional level and AOX activity could efficiently inhibit snail growth. However, the interference at the BgAOX protein activity level led to more severe tissue damage and more significant inhibition of oviposition than at the transcriptional level. This inhibition of growth and oviposition decreased gradually with the increase in the snail size.
CONCLUSIONS
The inhibition of AOX could efficiently disrupt the development and oviposition of B. glabrata snails, and the intervention targeting AOX at the juvenile stage is more effective for snails. This investigation explored the role of AOX in the growth and development of snails. It would benefit snail control in the future by providing a potential target while using molluscicides more efficiently.
Topics: Animals; Female; Biomphalaria; Oviposition; Schistosoma mansoni; Oxidoreductases
PubMed: 36804043
DOI: 10.1186/s13071-022-05642-8 -
BMC Women's Health Dec 2022True hermaphroditism is a rare condition. It is defined as the presence of both testicular and ovarian tissues in the same individual. Sex cord tumour with annular... (Review)
Review
BACKGROUND
True hermaphroditism is a rare condition. It is defined as the presence of both testicular and ovarian tissues in the same individual. Sex cord tumour with annular tubules (SCTAT) is a rare stromal tumour of the sex cord that occurs mostly in the ovaries.
CASE PRESENTATION
A 16-year-old girl presented to the gynaecology department with primary amenorrhea. Gynaecological examination revealed an enlarged clitoris that looked like a small penis. The chromosome karyotype was chimaera. The postoperative pathology confirmed true hermaphroditism with SCTAT. The patient underwent hormonal replacement after an operation and had no evidence of recurrence for 6 months.
CONCLUSION
Cases of true hermaphroditism with SCTAT are extremely rare conditions. Surgery and hormonal replacement are important for improving the prognosis of such patients.
Topics: Male; Female; Humans; Adolescent; Ovarian Neoplasms; Ovotesticular Disorders of Sex Development; Sex Cord-Gonadal Stromal Tumors; Prognosis
PubMed: 36575516
DOI: 10.1186/s12905-022-02137-7 -
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 -
Frontiers in Cell and Developmental... 2022Gonadal sex differentiation among vertebrates involves divergent fates of a common group of progenitor cells present in both presumptive ovaries and testes. The first...
Gonadal sex differentiation among vertebrates involves divergent fates of a common group of progenitor cells present in both presumptive ovaries and testes. The first cell type to differentiate gives rise to pre-Sertoli cells in the testis, and pre-follicular cells in the ovary. These cells derive from a common lineage of so-called "supporting cells". In birds and other egg-laying vertebrates, locally synthesised estrogen has a central role in ovarian development and influences the fate of these supporting cells. Manipulation of estrogen levels during embryonic development induces gonadal sex reversal, providing an experimental setting to evaluate the process of gonadal sex differentiation. Recently, we identified PAX2 as a novel marker of the undifferentiated supporting cell lineage in the chicken embryo, expressed in both sexes prior to overt gonadal sex differentiation. expression is downregulated at the onset of gonadal sex differentiation in both males and females. The analysis of this undifferentiated supporting cell marker, together with Sertoli (male) and pre-granulosa (female) will enhance our understanding of supporting cell differentiation. Here we characterized the supporting cells differentiation process and identified undifferentiated supporting cells in estrogen-mediated sex reversal experiments. Female embryos treated with the aromatase inhibitor fadrozole developed into ovotestis, containing pre-granulosa cells, Sertoli cells and PAX2 positive undifferentiated supporting cells. In contrast, male embryos treated with 17β-estradiol showed no PAX2 undifferentiated gonadal supporting cells. Fadrozole time-course as well as multiple dose analysis suggests that supporting cell transdifferentiation involves a dedifferentiation event into a PAX2 undifferentiated supporting cell state, followed by a redifferentiation towards the opposite sex lineage.
PubMed: 36438569
DOI: 10.3389/fcell.2022.1042759 -
Frontiers in Immunology 2022Schistosomiasis, caused by infection with digenetic trematodes, is one of the deadliest neglected tropical diseases in the world. The lifecycle involves the miracidial...
Schistosomiasis, caused by infection with digenetic trematodes, is one of the deadliest neglected tropical diseases in the world. The lifecycle involves the miracidial infection of an intermediate freshwater snail host, such as . Dispersing snail host-derived miracidia attractants has been considered a method of minimising intermediate host infections and, by extension, human schistosomiasis. The attractiveness of to miracidia is known to be reduced following infection; however, the relationship between duration of infection and attractiveness is unclear. Excretory-secretory proteins (ESPs) most abundant in attractive snail conditioned water (SCW) are key candidates to function as miracidia attractants. This study analysed SCW from that were naïve (uninfected) and at different time-points post-miracidia exposure (PME; 16h, 1-week, 2-weeks and 3-weeks PME) to identify candidate ESPs mediating miracidia behaviour change, including aggregation and chemoklinokinesis behaviour (random motion, including slowdown and increased turning rate and magnitude). Miracidia behaviour change was only observed post-addition of naïve and 3W-PME SCW, with other treatments inducing significantly weaker behaviour changes. Therefore, ESPs were considered attractant candidates if they were shared between naïve and 3W-PME SCW (or exclusive to the former), contained a predicted N-terminal signal peptide and displayed low identity (<50%) to known proteins outside of the genus. Using these criteria, a total of 6 ESP attractant candidates were identified, including acetylcholine binding protein-like proteins and uncharacterised proteins. Tissue-specific RNA-seq analysis of the genes encoding these 6 ESPs indicated relatively high gene expression within various tissues, including the foot, mantle and kidney. Acetylcholine binding protein-like proteins were highly promising due to their high abundance in naïve and 3W-PME SCW, high specificity to and high expression in the ovotestis, from which attractants have been previously identified. In summary, this study used proteomics, guided by behavioural assays, to identify miracidia attractant candidates that should be further investigated as potential biocontrols to disrupt miracidia infection and minimise schistosomiasis.
Topics: Animals; Humans; Biomphalaria; Schistosoma mansoni; Proteomics; Acetylcholine; Snails; Schistosomiasis; Proteins; Water; Protein Sorting Signals
PubMed: 36300127
DOI: 10.3389/fimmu.2022.954282 -
Annual Review of Animal Biosciences Feb 2023Talpid moles and spotted hyenas have become the paradigms of anatomical and behavioral female masculinization. Females of many mole species develop ovotestes that... (Review)
Review
Talpid moles and spotted hyenas have become the paradigms of anatomical and behavioral female masculinization. Females of many mole species develop ovotestes that produce testosterone, show external genitalia that resemble that of males, and close their vaginal orifice after every estrus, and female spotted hyenas lack an external vaginal orifice and develop a pseudoscrotum and a large pseudopenis through which they urinate, mate, and give birth. We review current knowledge about several significant aspects of the biology and evolution of these females, including () their specific study methods; () their unique anatomical features, and how these peculiarities influence certain physiological functions; and () the role that steroid hormones as well as genetic and environmental factors may have in urogenital system development, aggressive behavior, and social dominance. Nevertheless, both mole and hyena females are exceptionally efficient mothers, so their peculiar genitalia should not call into question their femininity.
Topics: Male; Female; Animals; Hyaenidae; Moles; Steroids; Genitalia; Biology
PubMed: 36130099
DOI: 10.1146/annurev-animal-050622-043424 -
Health Psychology and Behavioral... 2022The aim of the study was to present metal health, psychosocial functioning and quality of life (QoL) of children and adolescents with a difference in sex development...
The aim of the study was to present metal health, psychosocial functioning and quality of life (QoL) of children and adolescents with a difference in sex development (DSD) from their first visit in the newly established multidisciplinary team in 2002-2004 in Norway. A secondary aim was to explore mental health, psychosocial functioning and QoL in the same cohort patient's as for today and finally explore any childhood predictors for these outcomes in adulthood. The first part of the study took place in 2002-2004 in a mixed cohort of children and adolescents born with a DSD in 1982-2002, compared to a healthy comparison group. This part involved semi-structured interviews and self-reported and proxy-reported questionnaires. The second part of the study is a longitudinal study of the same participants 15-20 years later (2018-2020). The participants at baseline of the study consisted of 33 patients; 24 assigned females (congenital adrenal hyperplasia, androgen insensitivity syndrome, gonadal dysgenesis and ovotesticular DSD) and nine assigned males; all with a hypospadias diagnosis. Significant differences were found for behavioral and emotional problems between groups, 46, XX females with significant higher total scores on YSR (49.43 + 24.17, = .047); 46, XY females (21.00 + 12.04, = .032); and higher internalizing problems scores (YSR) in 46, XX females (16.57 + 9.74), compared with the 46, XY females (5.60 + 5.32, = .047). A positive association between QoL of the participants in adulthood and PedsQL' social function ( = .657, = .020) and psychosocial function in childhood ( = .596, = .041) was found. In summary, this study demonstrated that adolescents assigned females with DSD might have more psychiatric problems and a poorer degree of psychosocial functioning compared to a healthy comparison group. As we do find an association with these problems in adolescence and later adult QoL, it is of great importance to respond to these behaviors in early life.
PubMed: 36105256
DOI: 10.1080/21642850.2022.2116329 -
BMC Medical Genomics Sep 202246,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome... (Review)
Review
BACKGROUND
46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. SRY-negative 46,XX males show overexpression of pro-testis genes, such as SOX9 and SOX3, or failure of pro-ovarian genes, such as WNT4 and RSPO1, which induces testis differentiation, however, almost all testicles exhibit dysgenesis. Following inadequate exposure to androgens during the embryo stage, remnants of the Mullerian duct and incomplete closure of the urogenital sinus lead to enlargement of prostatic utricles. This condition is associated with proximal hypospadias and disorders of sex development. Many cases are asymptomatic, but show increased rates of postoperative complications and surgical failure.
CASE PRESENTATION
A 5-year-old Chinese boy with scrotal hypospadias and bilateral cryptorchidism with prostatic utricles was presented. Gonadal histology showed ovo-testicular tissue on the right side and testicular tissue on the left side; all testicular tissue exhibited dysgenesis. Furthermore, chromosome karyotype analysis revealed 46,XX and, the presence of SRY was ruled out by polymerase chain reaction analysis. Whole-genome analysis showed the boy has a 1.4-Mb duplication in the Xq27.1q27.2 region (arr[hg19]Xq27.1q27.2:139585794-140996652) involving SOX3. No SOX3 duplication was observed in the parents, who had a normal phenotype.
CONCLUSIONS
We report the first case of an SRY-negative 46 XX male with prostatic utricle caused by SOX3 duplication. SOX3 duplication may cause sex reversal, and all 46,XX SRY-negative males should be screened for SOX3 mutations. Gonadal biopsy is recommended to evaluate ovarian and testicular tissue development. Testicular dysgenesis and low exposure to male hormones during fetal development can lead to enlarged prostatic utricles. Thus endoscopic examination should be performed preoperatively to detect prostatic utricles in SRY-negative 46,XX males to determine the surgical plan and reduce postoperative complications.
Topics: Disorders of Sex Development; Humans; Hypospadias; Male; Postoperative Complications; SOXB1 Transcription Factors; Saccule and Utricle; Testis
PubMed: 36064700
DOI: 10.1186/s12920-022-01347-0 -
International Braz J Urol : Official... 2022Ovotesticular disorder of sexual development (DSD) is the rarest of DSDs with an incidence of 1:20000 (1). Management of vaginal pouches in such cases is warranted for...
PURPOSE
Ovotesticular disorder of sexual development (DSD) is the rarest of DSDs with an incidence of 1:20000 (1). Management of vaginal pouches in such cases is warranted for symptomatic presentations and laparoscopy is considered the gold standard treatment (2). We report a rare case of robotic excision of a large symptomatic vaginal pouch in a 19-year-old boy with ovotesticular DSD.
MATERIAL AND METHODS
A 19-year-old boy with ovotesticular DSD post hypospadias repair in early childhood presented with complaints of recurrent UTIs, ballooning of urethra during micturition and post-void dribbling. Ultrasound, voiding cystourethrogram (VCUG) and magnetic resonance imaging (MRI) were suggestive of a vaginal pouch. The patient underwent endo-evaluation followed by robot-assisted excision of the vaginal pouch. Endo-evaluation showed two orifices in the posterior urethra. The posterior orifice was leading into a blind-ending rudimentary uterus and the true urethra was lying anteriorly. The DaVinci Xi Robotic Surgical System was used and the entire pouch was dissected free of the surrounding tissues using monopolar scissors. The pouch was transected just a few millimetres from its junction with the urethra. The urethra was then closed with V-loc 4-0 suture. The patient was discharged on postoperative day 2 and the catheter was removed on day 21.
RESULTS
Follow-up VCUG at 6 weeks did not show any residual pouch. There was no complaint of post-void dribbling or UTI at 30 months of follow-up.
CONCLUSION
Robot-assisted laparoscopy should be considered as an alternative to laparoscopy for the primary treatment of a large symptomatic vaginal pouch.
Topics: Adult; Child, Preschool; Disorders of Sex Development; Endometriosis; Female; Humans; Laparoscopy; Male; Ovotesticular Disorders of Sex Development; Robotic Surgical Procedures; Robotics; Sexual Development; Vagina; Young Adult
PubMed: 36037259
DOI: 10.1590/S1677-5538.IBJU.2022.0038 -
Acta Tropica Nov 2022Schistosomiasis is one of the most prevalent waterborne parasitic diseases affecting humans. In natural conditions, snails are necessary for maintenance of its lifecycle...
Schistosomiasis is one of the most prevalent waterborne parasitic diseases affecting humans. In natural conditions, snails are necessary for maintenance of its lifecycle and also required as intermediate hosts to maintain the lifecycle in laboratory settings. In the present study, the location of S. mansoni larvae in Biomphalaria glabrata snails after infection (inoculation of miracidia) was investigated. Larvae were found located in the head-foot (HF) area of B. glabrata snails at 10 days post-infection (DPI), then their location was predominantly changed to the hepatopancreas and ovotestis (HPOT) area by 56 DPI. Next, the effects of extracts from various organs of B. glabrata snails including HF and HPOT for in vitro culturing of S. mansoni larvae were investigated. The HF extract enabled prolonged culturing of S. mansoni larvae. Furthermore, sequential use of that followed by the HPOT extract supported larval development or reproduction of daughter sporocysts. These results may provide important information for identifying essential factors and molecules for culturing Schistosoma larvae in vitro.
Topics: Animals; Biomphalaria; Host-Parasite Interactions; Humans; Larva; Life Cycle Stages; Reproduction; Schistosoma mansoni; Schistosomiasis mansoni
PubMed: 35944582
DOI: 10.1016/j.actatropica.2022.106636