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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 -
European Journal of Endocrinology Sep 2022Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical.
BACKGROUND
Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical.
OBJECTIVE
The aim of this study is to report the histological characteristics and immunoexpression patterns of gonadal parenchyma in patients with 46,XX testicular and ovotesticular DSD, with a focus on the detection of germ cell malignancies.
DESIGN
Inclusion criteria were SRY-negative 46,XX testicular and ovotesticular DSD with available samples from gonadal biopsy or gonadectomy for the review of histological findings. Gonadal histology was assessed on hematoxylin and eosin-stained sections and immunohistochemical analysis. Histopathological criteria from the last World Health Organization classification of urogenital tumors were used to identify undifferentiated gonadal tissue, gonadoblastoma, and dysgerminoma.
RESULTS
Median age at first histological evaluation of gonadal samples was 1.46 years (range: 0.16-16 years). Totally 15 patients were classified as ovotesticular and only 1 as testicular DSD. Most individuals had bilateral ovotestes (12/15). No histological alterations were found in the ovarian parenchyma, while signs of dysgenesis were seen in all cases of testicular parenchyma. In 4/15 ovotesticular DSD, a prepubertal biopsy failed to identify ovarian parenchyma. We detected early prepubertal preinvasive and invasive malignancies in this cohort (five patients had undifferentiated gonadal tissue, five gonadoblastoma, and one dysgerminoma).
CONCLUSION
46,XX disorders of gonadal development are historically considered at a low risk for germ cell cancer, and the need for assessment of gonadal histology has been questioned. The finding of early germ cell malignancies in our cohort brings awareness and needs further research.
Topics: Disorders of Sex Development; Dysgerminoma; Female; Gonadoblastoma; Humans; Male; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Ovotesticular Disorders of Sex Development
PubMed: 35900314
DOI: 10.1530/EJE-22-0283 -
Nature Communications Jul 2022Fate determination and maintenance of fetal testes in most mammals occur cell autonomously as a result of the action of key transcription factors in Sertoli cells....
Fate determination and maintenance of fetal testes in most mammals occur cell autonomously as a result of the action of key transcription factors in Sertoli cells. However, the cases of freemartin, where an XX twin develops testis structures under the influence of an XY twin, imply that hormonal factor(s) from the XY embryo contribute to sex reversal of the XX twin. Here we show that in mouse XY embryos, Sertoli cell-derived anti-Mullerian hormone (AMH) and activin B together maintain Sertoli cell identity. Sertoli cells in the gonadal poles of XY embryos lacking both AMH and activin B transdifferentiate into their female counterpart granulosa cells, leading to ovotestis formation. The ovotestes remain to adulthood and produce both sperm and oocytes, although there are few of the former and the latter fail to mature. Finally, the ability of XY mice to masculinize ovaries is lost in the absence of these two factors. These results provide insight into fate maintenance of fetal testes through the action of putative freemartin factors.
Topics: Activins; Animals; Anti-Mullerian Hormone; Autocrine Communication; Cell Differentiation; Female; Male; Mammals; Mice; Paracrine Communication; Semen; Sertoli Cells; Testis
PubMed: 35840551
DOI: 10.1038/s41467-022-31486-y -
International Journal of Molecular... May 2022Germline stem cells (GSCs) are a group of unique adult stem cells in gonads that act as important transmitters for genetic information. Donor GSCs have been used to...
Germline stem cells (GSCs) are a group of unique adult stem cells in gonads that act as important transmitters for genetic information. Donor GSCs have been used to produce offspring by transplantation in fisheries. In this study, we successfully isolated and enriched GSCs from the ovary, ovotestis, and testis of , one of the most important breeding freshwater fishes in China. Transcriptome comparison assay suggests that a distinct molecular signature exists in each type of GSC, and that different signaling activities are required for the maintenance of distinct GSCs. Functional analysis shows that fGSCs can successfully colonize and contribute to the germline cell lineage of a host zebrafish gonad after transplantation. Finally, we describe a simple feeder-free method for the isolation and enrichment of GSCs that can contribute to the germline cell lineage of zebrafish embryos and generate the germline chimeras after transplantation.
Topics: Adult Stem Cells; Animals; Female; Germ Cells; Gonads; Male; Sex Determination Processes; Zebrafish
PubMed: 35682541
DOI: 10.3390/ijms23115861 -
Acta Bio-medica : Atenei Parmensis Jun 2022Disorders of sexual differentiation (DSD) with karyotype 46,XY include gonadal developmental differences such as complete gonadal dysgenesis, partial gonadal dysgenesis,...
BACKGROUND AND AIM
Disorders of sexual differentiation (DSD) with karyotype 46,XY include gonadal developmental differences such as complete gonadal dysgenesis, partial gonadal dysgenesis, testicular regression and ovotesticular sexual differentiation disorder, differences in androgen synthesis or action, such as androgen synthesis deficiency, androgen action deficits, LH receptor deficiency, AMH synthesis or action deficits, and other conditions such as severe hypospadias, cloaca estrophy, etc. Methods: A 17 years-old girl came to our attention for hirsutism, clitoral hypertrophy, primary amenorrhea, and bilateral mammary hypoplasia. According to clinical features and anamnesis, the diagnosis of 46, XY DSD was made. For diagnostic purposes, she underwent an extensive genetic analysis, hormone dosage and instrumental examinations. After a clitoridoplasty and hormone replacement treatment, the patient performs appropriate multidisciplinary follow-up and regular psychotherapy.
RESULTS
The clinical case reported falls, according to the recent classification developed by the Chicago Consensus, within the scope of DSD with karyotype 46, XY. About 160 cases of patients with 17β-HSD3 deficiency, diagnosed at a mean age of 12 years, are described in the literature, most of them coming from Western Asia and Europe and only three cases from Eastern Asia. Clinically, about 30% of patients showed virilization, 20% clitoromegaly, ambiguous genitalia, inguinal/labial mass, 16% primary amenorrhea, and 5% absence of mammary development, features that are partly traced in the case described here.
CONCLUSIONS
This case underscores the complexity of managing individuals with DSD. Having acquired the concept that irreversible surgery should be avoided, except in cases where failure to do so would determine health risks, the primary objective of the medical decision lies in meeting conditions aimed at harmonious sexual identification, especially regarding sexual activity and fertility, involving a team of experienced professionals (psychologists, pediatricians, surgeons, endocrinologists, radiologists), capable of promptly identifying suggestive clinical signs.
Topics: Adolescent; Amenorrhea; Androgens; Child; Disorders of Sex Development; Female; Gonadal Dysgenesis; Gonadal Dysgenesis, 46,XY; Humans; Male; Sexual Behavior
PubMed: 35666121
DOI: 10.23750/abm.v93iS3.13067 -
Genomics Jul 2022Disorders of sex development (DSDs) are congenital malformations defined as discrepancies between sex chromosomes and phenotypical sex. Testicular or ovotesticular XX...
Disorders of sex development (DSDs) are congenital malformations defined as discrepancies between sex chromosomes and phenotypical sex. Testicular or ovotesticular XX DSDs are frequently observed in female dogs, while monogenic XY DSDs are less frequent. Here, we applied whole genome sequencing (WGS) to search for causative mutations in XX DSD females in French Bulldogs (FB) and American Staffordshire Terries (AST) and in XY DSD Yorkshire Terries (YT). The WGS results were validated by Sanger sequencing and ddPCR. It was shown that a missense SNP of the PADI6 gene, is significantly associated with the XX DSD (SRY-negative) phenotype in AST (P = 0.0051) and FB (P = 0.0306). On the contrary, we did not find any associated variant with XY DSD in YTs. Our study suggests that the genetic background of the XX DSD may be more complex and breed-specific.
Topics: Animals; Disorders of Sex Development; Dogs; Female; Ovotesticular Disorders of Sex Development; Polymorphism, Genetic; Sexual Development; Whole Genome Sequencing
PubMed: 35597501
DOI: 10.1016/j.ygeno.2022.110389 -
Environmental Toxicology and Chemistry Aug 2022Chemicals with androgenic or estrogenic activity induce the sex reversal and/or intersex condition in various teleost fish species. Previously, we reported that exposure...
Gonadal Soma-Derived Factor Expression is a Potential Biomarker for Predicting the Effects of Endocrine-Disrupting Chemicals on Gonadal Differentiation in Japanese Medaka (Oryzias Latipes).
Chemicals with androgenic or estrogenic activity induce the sex reversal and/or intersex condition in various teleost fish species. Previously, we reported that exposure to 17α-methyltestosterone, bisphenol A, or 4-nonylphenol induces changes in expression of the gonadal soma-derived factor (gsdf) gene accompanied by disruption of gonadal differentiation in Japanese medaka (Oryzias latipes). These findings suggest that gsdf expression might be a useful biomarker for predicting the potential effect of chemicals on gonadal differentiation. We examined the gsdf expression in Japanese medaka exposed to chemicals with estrogenic or androgenic activity. Exposure to the androgenic steroid 17β-trenbolone at 0.5-22.1 μg/L induced the development of ovotestis (presence of ovarian tissue with testicular tissue) and female-to-male sex reversal in XX embryos, and exposure at 6.32 and 22.1 μg/L significantly increased gsdf expression in XX embryos compared with controls at developmental stage 38 (1 day before hatching). In the present study, no statistically significant difference in gsdf mRNA expression was observed after exposure to 17β-estradiol, 17α-ethinylestradiol, and 4-t-octylphenol, which have estrogenic activity. In addition, antiandrogenic chemicals or chemicals without endocrine-disrupting activity did not induce changes in gsdf expression in XX or XY embryos. Thus, an increase in gsdf expression after androgen exposure was observed in XX embryos. Together, these findings indicate that gsdf expression might be useful for predicting the adverse effect of chemicals on gonadal differentiation. Environ Toxicol Chem 2022;41:1875-1884. © 2022 SETAC.
Topics: Animals; Biomarkers; Endocrine Disruptors; Ethinyl Estradiol; Female; Gonads; Male; Oryzias
PubMed: 35502944
DOI: 10.1002/etc.5353 -
Animals : An Open Access Journal From... Mar 2022A 3-to-4-year-old roe deer ( L.) was admitted to the Veterinary Hospital. Although it showed well-developed antlers with retained velvet, an external female appearance...
A 3-to-4-year-old roe deer ( L.) was admitted to the Veterinary Hospital. Although it showed well-developed antlers with retained velvet, an external female appearance and genitalia were evident. External biometrical measurements were taken for the antlers, and a computed tomography was performed. Molecular studies targeting the gene were performed, and a PIS (polled intersex syndrome) mutation diagnosis was implemented. The gonads consisted of a right testicle paired with a left ovotestis. Histologically, the ovary-like structures in the ovotestis were functional, but the testis, as the testis-like structure in the ovotestis, did not show active spermatogenesis. No evidence of gene was detected by PCR, suggesting an XX-chromosome constitution. Additionally, polled intersex syndrome (PIS) deletion was not detected in the case under study. The clinical and histopathological findings confirmed the DSD with the presence of a testicle and a contralateral ovotestis.
PubMed: 35405854
DOI: 10.3390/ani12070865