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Environmental Science and Pollution... Sep 2023Bisphenol A (BPA) is one of the most potent endocrine-disrupting chemicals (EDCs) that adversely affect aquatic organisms. The present investigation explored the effects...
Bisphenol A (BPA) is one of the most potent endocrine-disrupting chemicals (EDCs) that adversely affect aquatic organisms. The present investigation explored the effects of exposure to BPA at 0.1 and 1 mgL concentrations on the fecundity of Biomphalaria alexandrina, snail's infection with Schistosoma mansoni, and histology of the ovotestis and topographical structure of S. mansoni cercariae emerged from exposed snails. The 24 h LC and LC values of BPA against B. alexandrina were 8.31 and 10.88 mgL BPA, respectively. The exposure of snails to 0.1 or 1 mgL BPA did not affect the snail's survival. However, these concentrations caused an increase in the reproductive rate (R) of infected snails. A slight decrease in egg production was observed in snails exposed to 0.1 mgL BPA after being infected (infected then exposed). However, a significant increase in egg production was noted in snails exposed to 1 mgL BPA after infection with S. mansoni. Histopathological investigations indicated a clear alteration in the ovotestis tissue structure of exposed and infected-exposed groups compared to the control snails. Chronic exposure to BPA caused pathological alterations in the gametogenic cells. SEM preparations of S. mansoni cercariae emerged from infected-exposed snails showed obvious body malformations. From a public health perspective, BPA pollution may negatively impact schistosomiasis transmission, as indicated by the disturbance in cercarial production and morphology. However, it has adverse effects on the reproduction and architecture of reproductive organs of exposed snails, indicating that B. alexandrina snails are sensitive to sublethal BPA exposure.
Topics: Animals; Schistosoma mansoni; Biomphalaria; Parasites; Benzhydryl Compounds
PubMed: 37597145
DOI: 10.1007/s11356-023-29167-4 -
Acta Medica (Hradec Kralove) 2021Disorders of sexual development (DSD) refers to a group of diseases that links the mismatch between an individual's genetic and gonadal development and its phenotype....
Disorders of sexual development (DSD) refers to a group of diseases that links the mismatch between an individual's genetic and gonadal development and its phenotype. Ovotesticular DSD (true hermaphroditism) is one such disease, in which both male and female gonads are present. A 15-year-old boy with a history of surgery for non-palpable testis was examined due to bilateral gynecomastia and known gonosomal mosaic of Klinefelter syndrome. The external genital was matured as male and, in the left half of the scrotum, there was a testicle of normal size. Despite uncertain resistance on the right side, however, the right testis was not palpable. Revision of the right groin revealed a surprising finding in the form of an ovary with a dilated fallopian tube, both of which were completely removed. Surgical revision of the left testis with biopsy was performed. The surgery was completed with a bilateral mastectomy. The postoperative course was uncomplicated, and the boy is content and fully integrated into his peer group. True hermaphroditism is a rare type of DSD. In the case described, DSD was not exhibited until puberty, after an examination for gynecomastia. The case also confirms the necessity of clarification and long-term follow-up of patients with unclear findings during surgery for non-palpable testis. Diagnostic laparoscopy is clearly indicated in these situations.
Topics: Adolescent; Genitalia; Gonads; Gynecomastia; Humans; Laparoscopy; Male; Ovotesticular Disorders of Sex Development; Phenotype
PubMed: 33855958
DOI: 10.14712/18059694.2021.7 -
Comparative Biochemistry and... Jan 2022Histone lysine demethylases (KDM) are responsible for histone demethylation and are involved in gene expression regulation. Previous studies have shown that histone...
Histone lysine demethylases (KDM) are responsible for histone demethylation and are involved in gene expression regulation. Previous studies have shown that histone lysine demethylation plays an important role in gonadal development of vertebrates. The KDM family consists of eight subfamilies, i.e., kdm1, kdm2, kdm3, kdm4, kdm5, kdm6, kdm7 and JmjC-only subfamily. In this study, 13 to 63 KDM genes in 23 representative species were identified based on the available version of genome assembly. Phylogenetic relationships, domain architecture, and synteny of these genes were comprehensively analyzed and the results suggested KDM genes probably originated from the early diverging metazoan and significantly expanded in vertebrates with multiple whole genome duplication, especially in the third-round whole genome duplication (3R-WGD) and polyploidization of teleosts. The subfamilies of kdm2, kdm3, kdm4, kdm5, kdm6 and kdm7 were duplicated with 1R-2R events, and duplicates of kdm2a, kdm4a, kdm5b and kdm6b were resulted from 3R-WGD. Based on transcriptome data, the KDM genes were found to be dominantly expressed in the ovary and testis. More than 80% of KDM genes displayed sexual dimorphic expression, with 15 genes dominantly expressed in ovaries, and 12 genes dominantly expressed in testes. Importantly, from transcriptome data, qRT-PCR and fluorescence in situ hybridization during sex reversal, genes with higher expression in ovary than testis, such as kdm1b and two JmjC-only subfamily members hspbap1 and riox1, were downregulated, while other genes, such as kdm3c, kdm5bb, kdm6ba, kdm6bb and kdm7b, with higher expression in testis than ovary, were upregulated in ovotestis, indicating these genes play critical roles in the gonadal development and sex reversal. This study provided new insights into the evolution of the KDM genes and a fundamental clue for understanding their important roles in sex differentiation and gonadal development in teleosts.
Topics: Animals; Cichlids; Female; Gonads; Histone Demethylases; In Situ Hybridization, Fluorescence; Male; Phylogeny
PubMed: 34624518
DOI: 10.1016/j.cbpb.2021.110674 -
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 -
Frontiers in Toxicology 2023Japanese medaka () is an acceptable small laboratory fish model for the evaluation and assessment of endocrine-disrupting chemicals (EDCs) found in the environment. In...
Japanese medaka () is an acceptable small laboratory fish model for the evaluation and assessment of endocrine-disrupting chemicals (EDCs) found in the environment. In this research, we used this fish as a potential tool for the identification of EDCs that have a significant impact on human health. We conducted an electronic search in PubMed (http://www.ncbi.nlm.nih.gov/pubmed) and Google Scholar (https://scholar.google.com/) using the search terms, Japanese medaka, , and endocrine disruptions, and sorted 205 articles consisting of 128 chemicals that showed potential effects on estrogen-androgen-thyroid-steroidogenesis (EATS) pathways of Japanese medaka. From these chemicals, 14 compounds, namely, 17β-estradiol (E2), ethinylestradiol (EE2), tamoxifen (TAM), 11-ketotestosterone (11-KT), 17β-trenbolone (TRB), flutamide (FLU), vinclozolin (VIN), triiodothyronine (T3), perfluorooctanoic acid (PFOA), tetrabromobisphenol A (TBBPA), terephthalic acid (TPA), trifloxystrobin (TRF), ketoconazole (KTC), and prochloraz (PCZ), were selected as references and used for the identification of apical endpoints within the EATS modalities. Among these endpoints, during classification, priorities are given to sex reversal (masculinization of females and feminization of males), gonad histology (testis-ova or ovotestis), secondary sex characteristics (anal fin papillae of males), plasma and liver vitellogenin (VTG) contents in males, swim bladder inflation during larval development, hepatic vitellogenin () and choriogenin () genes in the liver of males, and several genes, including estrogen-androgen-thyroid receptors in the hypothalamus-pituitary-gonad/thyroid axis (HPG/T). After reviewing 205 articles, we identified 108 (52.68%), 46 (22.43%), 19 (9.26%), 22 (17.18%), and 26 (12.68%) papers that represented studies on estrogen endocrine disruptors (EEDs), androgen endocrine disruptors (AEDs), thyroid endocrine disruptors (TEDs), and/or steroidogenesis modulators (MOS), respectively. Most importantly, among 128 EDCs, 32 (25%), 22 (17.18%), 15 (11.8%), and 14 (10.93%) chemicals were classified as EEDs, AEDs, TEDs, and MOS, respectively. We also identified 43 (33.59%) chemicals as high-priority candidates for tier 2 tests, and 13 chemicals (10.15%) show enough potential to be considered EDCs without any further tier-based studies. Although our literature search was unable to identify the EATS targets of 45 chemicals (35%) studied in 60 (29.26%) of the 205 articles, our approach has sufficient potential to further move the laboratory-based research data on Japanese medaka for applications in regulatory risk assessments in humans.
PubMed: 38090358
DOI: 10.3389/ftox.2023.1272368 -
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 -
Comparative Biochemistry and... Nov 2019In the present study, we investigated plasma biochemical and steroid hormone responses, together with gonado-histopathological alterations in Clarias gariepinus exposed...
In the present study, we investigated plasma biochemical and steroid hormone responses, together with gonado-histopathological alterations in Clarias gariepinus exposed to sublethal concentrations of two synthetic pyrethroids (cypermethrin and deltamethrin). Fish were exposed to environmentally-relevant concentrations of cypermethrin at 0 (ethanol solvent control), 0.07, 0.014, 0.028, 0.056) and deltamethrin at 0.22, 0.44, 0.88 and 1.76 μg/L, for 7, 14, 21 and 28 days. Plasma enzyme (aspartate transaminase: AST, alanine transaminase: ALT and alkaline phosphatase: ALP) and steroid hormones (estradiol-17β: E2, testosterone: T) levels were analyzed. Gonado-histopathological evaluation shows the presence of ovo-testis (intersex), oocytes atresia, cytoplasmic degeneration and clumping of vitellogenic oocytes in females, while male fish displayed enlargement and degeneration of testicular seminiferous tubules after 28 days exposure to cypermethrin and deltamethrin. Plasma biochemical analysis in pesticides exposed fish revealed that AST, ALT and ALP were significantly increased in a concentration-dependent manner. In addition, we observed respective and apparent concentration- and time-dependent increase and decrease of plasma E2 and T levels, compared to control. Interestingly, the significant increase in E2 levels paralleled gonadal ovo-testis (intersex) condition in exposed fish, indicating endocrine disruptive effects of cypermethrin and deltamethrin that favor the estrogenic pathway, in addition to overt negative consequences on reproductive, biochemical and physiological health of the exposed fish.
Topics: Alanine Transaminase; Alkaline Phosphatase; Animals; Aspartate Aminotransferases; Catfishes; Endocrine Disruptors; Estradiol; Female; Male; Nitriles; Ovary; Pyrethrins; Reproduction; Testis; Testosterone; Water Pollutants, Chemical
PubMed: 31394255
DOI: 10.1016/j.cbpc.2019.108584 -
Bulletin of Environmental Contamination... Jun 2020In this study, freshwater snail (Physa acuta) was investigated to determine histopathological effects of CuSO on digestive gland, foot, mantle and ovotestis under...
In this study, freshwater snail (Physa acuta) was investigated to determine histopathological effects of CuSO on digestive gland, foot, mantle and ovotestis under laboratory conditions. The snails were exposed to different sublethal concentrations of CuSO (0.05 mg/L, 0.1 mg/L and 0.2 mg/L) periods of 10, 20 and 30 days. The relationship between CuSO concentration and mortality rate in snails was calculated as Y = 8.8 + 125.14X, R = 0.9444. The histopathological examinations revealed that CuSO caused significant histopathological changes in all the tissues of the snail. The severity of these lesions in tissues increased with increasing CuSO concentration and duration of exposure. The results showed that freshwater snail, Physa acuta can be considered to be a suitable bioindicator to demonstrate the toxic effect of copper in aquatic environments.
Topics: Animals; Copper Sulfate; Digestive System; Dose-Response Relationship, Drug; Fresh Water; Gonads; Muscles; Snails; Turkey; Water Pollutants, Chemical
PubMed: 32313983
DOI: 10.1007/s00128-020-02846-5 -
The Journal of Comparative Neurology Jun 2021Freshwater snails of the genus Biomphalaria serve as obligatory hosts for the digenetic trematode Schistosoma mansoni, the causative agent for the most widespread form...
Freshwater snails of the genus Biomphalaria serve as obligatory hosts for the digenetic trematode Schistosoma mansoni, the causative agent for the most widespread form of intestinal schistosomiasis. Within Biomphalaria, S. mansoni larvae multiply and transform into the cercariae form that can infect humans. Trematode development and proliferation is thought to be facilitated by modifications of host behavior and physiological processes, including a reduction of reproduction known as "parasitic castration." As neuropeptides participate in the control of reproduction across phylogeny, a neural transcriptomics approach was undertaken to identify peptides that could regulate Biomphalaria reproductive physiology. The present study identified a transcript in Biomphalaria alexandrina that encodes a peptide belonging to the gonadotropin-releasing hormone (GnRH) superfamily. The precursor and the predicted mature peptide, pQIHFTPDWGNN-NH (designated Biom-GnRH), share features with peptides identified in other molluscan species, including panpulmonates, opisthobranchs, and cephalopods. An antibody generated against Biom-GnRH labeled neurons in the cerebral, pedal, and visceral ganglia of Biomphalaria glabrata. GnRH-like immunoreactive fiber systems projected to all central ganglia. In the periphery, immunoreactive material was detected in the ovotestis, oviduct, albumen gland, and nidamental gland. As these structures serve crucial roles in the production, transport, nourishment, and encapsulation of eggs, disruption of the GnRH system of Biomphalaria could contribute to reduced reproductive activity in infected snails.
Topics: Amino Acid Sequence; Animals; Biomphalaria; Gonadotropin-Releasing Hormone; Host-Parasite Interactions; Neuropeptides; Schistosoma mansoni; Schistosomiasis mansoni
PubMed: 33368267
DOI: 10.1002/cne.25099 -
Biology of Reproduction Mar 2024Pigs serve as a robust animal model for the study of human diseases, notably in the context of disorders of sex development (DSD). This study aims to investigate the...
Pigs serve as a robust animal model for the study of human diseases, notably in the context of disorders of sex development (DSD). This study aims to investigate the phenotypic characteristics and molecular mechanisms underlying the reproductive and developmental abnormalities of 38,XX ovotestis-DSD (OT-DSD) and 38,XX testis-DSD (T-DSD) in pigs. Clinical and transcriptome sequencing analyses were performed on DSD and normal female pigs. Cytogenetic and SRY analyses confirmed that OT/T-DSD pigs exhibited a 38,XX karyotype and lacked the SRY gene. The DSD pigs had higher levels of follicle-stimulating hormone, luteinizing hormone, and progesterone, but lower testosterone levels when compared with normal male pigs. The reproductive organs of OT/T-DSD pigs exhibit abnormal development, displaying both male and female characteristics, with an absence of germ cells in the seminiferous tubules. Sex determination and development-related differentially-expressed genes (DEGs) shared between DSD pigs were identified in the gonads, including WT1, DKK1, CTNNB1, WTN9B, SHOC, PTPN11, NRG1 and NXK3-1. DKK1 is proposed as a candidate gene for investigating the regulatory mechanisms underlying gonadal phenotypic differences between OT-DSD and T-DSD pigs. Consequently, our findings provide insights into the molecular pathogenesis of DSD pigs and present an animal model for studying into DSD in humans.
PubMed: 38531779
DOI: 10.1093/biolre/ioae046