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British Medical Journal Mar 1948
Topics: Humans; Ovotesticular Disorders of Sex Development
PubMed: 18909491
DOI: 10.1136/bmj.1.4550.571 -
Annals of Surgery Nov 1952
Topics: Disorders of Sex Development; Humans; Male; Ovotesticular Disorders of Sex Development
PubMed: 12986666
DOI: 10.1097/00000658-195211000-00010 -
The Journal of International Medical... 2008
Topics: Adolescent; Chromosomes, Human, X; Cryptorchidism; Female; Gonadal Steroid Hormones; Humans; Karyotyping; Male; Ovary; Ovotesticular Disorders of Sex Development; Sex Chromosome Aberrations; Testis
PubMed: 19094457
DOI: 10.1177/147323000803600635 -
Fertility and Sterility Nov 2010To describe genetic evaluation and response to surgery and letrozole therapy of a 46,XX/SRY-negative true hermaphrodite.
OBJECTIVE
To describe genetic evaluation and response to surgery and letrozole therapy of a 46,XX/SRY-negative true hermaphrodite.
DESIGN
Case report.
SETTING
University Medical Center.
PATIENT(S)
Nineteen-year-old male with penile hypospadias, micropenis, and crytorchidism at the time of birth.
INTERVENTION(S)
Unilateral gonadectomy, and contralateral conservative gonadal surgery, followed by therapy with letrozole.
MAIN OUTCOME MEASURE(S)
Histopathologic, genetic and hormonal studies.
RESULT(S)
Genetic analysis showed that the subject was 46,XX/SRY-negative. Gonadectomy of the left gonad was performed at 16 years. The gonad resected was an ovotestes. The patient's estradiol was high (492±25 pmol/L), whereas the testosterone was low (4.2±0.5 nmol/L). Nineteen months later, conservative gonadal surgery of the contralateral gonad was performed to resect ovarian tissue, and treatment with letrozole was started. During letrozole treatment, testosterone was significantly increased (8±0.7 nmol/L), but estradiol was not changed (323±118 pmol/L). After letrozole withdrawal, testosterone did not decreased significantly (6.9±0.4 nmol/L), estradiol showed an oscillating pattern and a gonadal ultrasound showed an ovoid structure, which appeared to correspond to a follicle. At that time, estradiol was elevated (393 pmol/L).
CONCLUSION(S)
We present the case of a 46,XX/SRY-negative phenotypic male with bilateral ovotestes. Conservative gonadal surgery should be performed only when all ovarian tissue can be resected. Our results suggest that letrozole is not an adequate treatment for 46,XX true hermaphrodite males with ovotestes.
Topics: Aromatase Inhibitors; Castration; Chromosomes, Human; Gene Deletion; Humans; Letrozole; Male; Nitriles; Ovotesticular Disorders of Sex Development; Sex-Determining Region Y Protein; Triazoles; Young Adult
PubMed: 20451191
DOI: 10.1016/j.fertnstert.2010.03.066 -
Animals : An Open Access Journal From... Sep 2020Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of...
Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breeders. The aim of this research is to report the clinical, cytogenetic and molecular genetic findings of four XX -negative DSD dog cases. All the subjects showed a female aspect and the presence of an enlarged clitoris with a penis bone. Morphopathological analyses performed in three of the four cases showed the presence of testes in two cases and ovotestis in another. Conventional and R-banded cytogenetic techniques were applied showing that no chromosome abnormalities were involved in these DSDs. CGH arrays show the presence of 11 copy number variations (CNVs), one of which is a duplication of 458 Kb comprising the genomic region between base 17,503,928 and base 17,962,221 of chromosome 9 (CanFam3 genome assembly). This CNV, confirmed also by qPCR, includes the promoter region of gene and could explain the observed phenotype.
PubMed: 32947906
DOI: 10.3390/ani10091667 -
Regulatory mechanism of LncRNAs in gonadal differentiation of hermaphroditic fish, Monopterus albus.Biology of Sex Differences Oct 2023Monopterus albus is a hermaphroditic fish with sex reversal from ovaries to testes via the ovotestes in the process of gonadal development, but the molecular mechanism...
BACKGROUND
Monopterus albus is a hermaphroditic fish with sex reversal from ovaries to testes via the ovotestes in the process of gonadal development, but the molecular mechanism of the sex reversal was unknown.
METHODS
We produced transcriptomes containing mRNAs and lncRNAs in the crucial stages of the gonad, including the ovary, ovotestis and testis. The expression of the crucial lncRNAs and their target genes was detected using qRT‒PCR and in situ hybridization. The methylation level and activity of the lncRNA promoter were analysed by applying bisulfite sequencing PCR and dual-luciferase reporter assays, respectively.
RESULTS
This effort revealed that gonadal development was a dynamic expression change. Regulatory networks of lncRNAs and their target genes were constructed through integrated analysis of lncRNA and mRNA data. The expression and DNA methylation of the lncRNAs MSTRG.38036 and MSTRG.12998 and their target genes Psmβ8 and Ptk2β were detected in developing gonads and sex reversal gonads. The results showed that lncRNAs and their target genes exhibited consistent expression profiles and that the DNA methylation levels were negatively regulated lncRNA expression. Furthermore, we found that Ptk2β probably regulates cyp19a1 expression via the Ptk2β/EGFR/STAT3 pathway to reprogram sex differentiation.
CONCLUSIONS
This study provides novel insight from lncRNA to explore the potential molecular mechanism by which DNA methylation regulates lncRNA expression to facilitate target gene transcription to reprogram sex differentiation in M. albus, which will also enrich the sex differentiation mechanism of teleosts.
Topics: Male; Animals; Female; RNA, Long Noncoding; Gonads; Ovary; Testis; Sex Differentiation; Smegmamorpha
PubMed: 37880697
DOI: 10.1186/s13293-023-00559-y -
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 -
Journal of the National Medical... Jul 1957
Topics: Disorders of Sex Development; Humans; Medical Records; Ovotesticular Disorders of Sex Development
PubMed: 13439384
DOI: No ID Found -
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 -
International Journal of Reproductive... Dec 2016Neuroendocine carcinoma of the gynecologic tract is rare and poses a significant clinical challenge because of tumor heterogeneity and lack of standardized guidelines...
BACKGROUND
Neuroendocine carcinoma of the gynecologic tract is rare and poses a significant clinical challenge because of tumor heterogeneity and lack of standardized guidelines for treatment. Ovotestis refers to the histology of a gonad that contains both ovarian follicles and testicular tubular elements. Ovotesticular disorder of sexual development occurs in fewer than 10% of all disorders of sexual development. Gonadal tumors with malignant potential occur in 2.6% of all cases of ovotesticular disorder of sexual development.
CASE
Here we represent a 77-year-old woman with primary amenorrhea, infertility and 10cm solid mass in left adnex with 46 XY in karyotype with ovotestis neuroendocrine neoplasm in pathology report which was treated with a multi-modality manner including surgery and chemotherapy but she came back with pulmonary metastasis after 2 cycles of chemotherapy. For women who present with a stage 1 primary ovarian neuroendocrine tumor the prognosis is excellent with greater than 90% survival. Neuroendocrine tumor of the ovary represents 3 % of all neuroendocrine tumors. The prevalence of ovotestis is 1/20000 births. For women with more advanced disease, the prognosis is poor. Neuroendocrine carcinoma of the ovary is a rare and aggressive tumor commonly associated with other surface epithelial and germ cell neoplasms. The prevalence of ovotestis is 1/20000 births and gonadal malignancies are the most reported neoplasm affected the ovotestis. Here we report a case of ovotestis which is presented with neuroendocrine carcinoma and poor prognosis.
CONCLUSION
Neuroendocrine carcinoma of the ovary is a rare and aggressive tumor commonly associated with other surface epithelial and germ cell neoplasms. The prevalence of ovotestis is rare and gonadal malignancies are the most reported neoplasm affected the ovotestis.
PubMed: 28066838
DOI: No ID Found