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At least 19 recordsLinked to original sources
PubMed1979

A patient with pure gonadal dysgenesis, gonadal tumour and virilisation.

A phenotypic female, karyotype XY presented with virilisation and amenorrhoea. The gonads showed evidence of oestrogen and testosterone production and, in view of the risk of malignancy, a laparotomy was performed. A streak gonad was present on one side with a streak gonad containing discrete tumours on the other. The uterus and Fallopian tubes were present. Removal of the gonads and uterus and subsequent oestrogen replacement therapy have produced a satisfactory clinical result.

Adult↗
PubMed1979

Evidence for a gonad-specific receptor for H-Y antigen: binding of exogenous H-Y antigen to gonadal cells is independent of beta 2-microglobulin.

This report addresses the question whether two different types of binding exist for the reaction of H-Y antigen with the cell surface. Anti-H-Y antiserum in the presence of complement was cytotoxic only for gonadal cells expressing their own H-Y antigen, but not to ovarian cells loaded with H-Y antigen. H-Y antigen was co-redistributed with beta 2--microglobulin on newborn testicular cells, but some residual H-Y activity was found on similarly treated testis cells from 15 day old rats. After beta 2--microglobulin redistribution, testis cells maintained their binding capacity for exogenous H-Y antigen prepared from epididymal fluid or Daudi cell culture supernatants. This result suggests that exogenous H-Y antigen is bound via a gonad-specific receptor which is independent of beta 2--microglobulin and that this type of binding for H-Y antigen is different from the beta 2--m-associated expression of H-Y antigen on the cell surface.

Animals↗
PubMed1979

Hypothalamic-pituitary responses to high concentrations of gonadal steroids in a three-month-old infant with a feminizing gonadal stromal tumor.

A 3-month-old female infant feminized by an ovarian stromal tumor is presented. Clinicopathologic aspects of such tumors occurring in infancy are discussed. In addition, the evaluation of hypothalamic-pituitary function preoperatively and postoperatively are presented. In the preoperative, high-steroid environment, both basal and stimulated secretion of follicle-stimulating hormone (FSH) was suppressed. Secretion of luteinizing hormone (LH) was normal. Following surgical castration, stimulated secretion of both gonadotropins clearly increased. These findings suggest an active but less sensitive negative feedback mechanism for FSH than for LH during infancy, i.e., high concentrations of gonadal steroids are necessary to maximally suppress FSH secretion while normal steroid concentrations appear to maximally suppress LH secretion. Developmental changes in hypothalamic-pituitary sensitivity to negative feedback controls are discussed in light of these findings.

Female↗
PubMed1975

Laparoscopy in endocrine and genetic disorders of the gonads.

The guideline of this work is to examine the diagnostic value of laparoscopy in some endocrine and genetic syndromes connected with gonadal pathology or abnormal sexual development in relation to the various hormonal and cytogenetic techniques usually utilized by the endocrinologist. After a brief introduction, Chapter 1 stresses our purpose to examine the advantages and limits of laparoscopy by investigating the most significant cases that came to our observation. Attention is drawn in Chapter 2 to the application of laparoscopy in a particular form of amenorrhea (uterus absence), admittedly of great endocrinologic interest. In particular, the results obtained by the application of this technique are reported in cases of uterus agenesis and the testicular feminization syndrome. The clinical, cytogenetic and hormonologic study of one case of uterus agenesis is reported together with that of four cases of the testicular feminization syndrome with the view to discussing the differential diagnosis between these two syndromes and the particular diagnostic problems connected with the latter. Our conclusion is that laparoscopy, although usually having only a confirmatory value in these syndromes, may assume in certain cases major diagnostic importance (the post-puberal testicular feminization syndrome without palpable gonads, the pre-puberal testicular feminization syndrome, rare cases of the testicular feminization syndrome associated with chromosome aberrations). Chapter 3 discusses the application of laparoscopy in female gonadal dysgenesis on the basis of three cases of Turner's syndrome with different diagnostic problems and one of pure gonadal dysgenesis. It is stressed that, although in the majority of cases of Turner's syndrome the laparoscopic findings are quite characteristic (streak gonads), in some cases the gonads may also present the aspect of hypoplastic ovaries. This finding is observed in two cases of Turner's syndrome with XO/XX mosaicism, of which one case with spontaneous menarche. The diagnostic value of laparoscopy is discussed in the cases of pure gonadal dysgenesis and in variants of Turner's syndrome chromatin-positive with X chromosome partial monosomy and chromatin-negative with a Y chromosome. Our conclusion is that laparoscopy assumes particular diagnostic value in cases of pure gonadal dysgenesis without chromosome aberrations, because chromosome aberrations may be absent in this syndrome, as well as in chromatin-negative variants with a Y chromosome because the gonads and gonaducts differentiation may be variable.

Adolescent↗
PubMedDate not supplied

Vaginal cytology and the human menopausal gonadotropin-test (HMG-cytohoromonal-test) in cases of gonadal dysgenesis.

Cytohormonal investigations and HMG-cytohormonal-test were carried out in 15 patients suffering from gonadal dysgenesis and the results were compared with the histology of the gonad, the karyotype and the clinical appearance. All patients were primary amenorrhoeic. According to the gonad histology and the phenotype the term "gonadal dysgenesis" was subdivided into Turner's syndrome, pure gonadal-dysgenesis and syndrome of ovarian hypoplasia. For the HMG-cytohormonal-test Humegon was administrated three times in weekly intervals (one amp. 75. i.u. in the first, two amp. in the second and three amp. in the third week). The gonadal response to Humegon was detected by vaginal cytology taken on the first, second, fourth and sixth days, after each injection of Humegon. Smears in patients with streak gonads irrespective of their phenotype were completely atrophic and did not change following Humegon administration. This finding seems to be characteristic and the HMG-cytohormonal-test is a simple way to diagnose the presence of the streak gonad. Cytohormonal patterns in the syndrome of ovarian hypoplasia accompanied by primary amenorrhoea consisted of mostly intermediate cells although superficial cells in five to 20 per cent and parabasal cells in five per cent also occurred. Following Humegon administration there were no or slight changes in the smears, much less marked than those in secondary ovarian failure.

Adolescent↗
PubMed2026

Genome-wide characterization of the FOX gene family reveals sex-biased expression and FoxO-associated regulation during gonadal development in Bellamya aeruginosa.

Forkhead box (FOX) transcription factors are important regulators of development and reproduction, but their roles in molluscan gonadal development remain unclear. In this study, the FOX gene family was systematically identified in the freshwater gastropod Bellamya aeruginosa, and comparative gonadal transcriptomic analyses were performed across sexes and developmental stages.A total of 35 FOX genes were identified and classified into 19 subfamilies. Phylogenetic and synteny analyses indicated that the FOX gene family is generally conserved among mollusks, whereas FoxG and FoxL2 showed lineage-specific expansion. Structural analyses demonstrated that most BaeFOX proteins retained the conserved Forkhead domain architecture. Transcriptomic analyses revealed that gene expression divergence between testes and ovaries was markedly greater than that between developmental stages within the same gonad, indicating that sexual dimorphism is the major source of gonadal transcriptional variation. Functional enrichment consistently identified the FoxO signaling pathway in sex-biased comparisons. Several FOX genes also displayed clear gonad-biased expression patterns, and network analyses suggested that BaeFoxO, BaeFoxL2, and BaeFoxG may play central regulatory roles in gonadal development. These findings provide the first comprehensive characterization of the FOX gene family in B. aeruginosa and suggest that FOX-related regulatory networks potentially participate in gonadal development in gastropod mollusks.

Animals↗
PubMed1978

[The mechanism of gonadal differentiation].

The steroid-hormone dependent sexual development presupposes the already sex-specific differentiated gonads. The H-Y antigen is held responsible for the primary differentiation of the indifferent gonadal anlage towards testicular organization. Studies on the function of H-Y antigen, using gonadal cells in vitro, have shown that in the presence of H-Y antigen the gonad differentiates into testicular, in its absence into ovarian structures, independent of whether the sex chromosomes are XX or XY. The gonads of both sexes are endowed with a specific H-Y receptor, other tissues are not. The bipotency of the gonadal anlage arises from this character. Some disorders of sexual development presumably go back to mutations affecting the genetic control of the H-Y gene and the function of H-Y antigen, respectively. It is discussed that the Y chromosome may have a mere regulatory function and not include the H-Y gene. Thus, the primary differentiation of the gonad should be dependent exclusively on whether or not the H-Y gene is active.

Female↗
PubMed1979

Germ cells and ova in dysgenetic gonads of a 46-XY female dizygotic twin.

The frequency of germ cell neoplasms in girls with 46-XY gonadal dysgenesis suggests that germ cells may persist in the dysgenetic gonads for many years. A phenotypic female infant with a karyotype of 46-XY in blood, skin, and gonads had a few ova in primordial follicles and numerous germ cells in her dysgenetic gonads at the age of 3 months. At 3 years and 10 months of age her gonads contained no primordial follicle and the only remaining germ cells were in a gonadoblastoma. We propose that germ cells are lost from dysgenetic gonads much more rapidly than from normal gonads, but that the rate of loss in patients with a karyotype of 46-XY may be less than the rate of loss in patients with a karyotype of 45-XO.

Child, Preschool↗
PubMed2026

Genomic identification and functional characterization of the nuclear receptor gene family in relation to sex determination and gonad development in the Pacific oyster (Crassostrea gigas).

Nuclear receptors (NRs) are a large superfamily of transcription factors that control a wide range of physiological processes by modulating the expression of downstream target genes. Numerous studies have confirmed that NR family members play critical and conserved roles in sex determination and gonadal development across metazoans. However, in mollusks, systematic characterization of NRs and their potential functions in gonadal regulation remain largely unexplored. In this study, 46 NR gene family members in the Pacific oyster (Crassostrea gigas) were identified and assigned to eight subfamilies. All NR family members contain at least one of the two core domains (DNA-binding domain, DBD; ligand-binding domain, LBD), and conserved exon-intron structures were observed within the same subgroup, indicating their evolutionary conservation. Furthermore, expression profiling revealed high expression of CgNR2F, CgNR5A1-1, and CgNR0B1 in undifferentiated gonads, suggesting their potential involvement in sex determination. CgNR1A and CgNR2E5 were specifically expressed in female gonads and exhibited female-biased expression patterns, indicating a putative role in ovarian development. Moreover, CgNR3A and CgNR3B showed high expression levels during the undifferentiated stage and early male development stage, implying their possible participation in male gonadal development and gametogenesis. These results expand the understanding of the NR gene family in C. gigas and help elucidate the potential functions of NR genes in sex determination and gonadal development.

Animals↗
PubMed1979

A reciprocal translocation (X;11) in a female with gonadal dysgenesis.

A 24-year-old female patient was referred for evaluation of primary amenorrhea. Endocrine studies showed elevated gonadotropins, consistent with gonadal failure. At laparoscopy, a normal nulligravid uterus, normal fallopian tubes, and bilateral streak gonads were observed. Histologic studies showed that the left gonad consisted entirely of fibrous tissue, confirming the presence of streak gonads. Chromosome banding studies of peripheral blood and cultures of tissue from the left gonad demonstrated a 46,X,rcp(X;11)(q22;q13) karyotype. A review of reports of X-autosome reciprocal translocations indicated that abnormal gonadal development is associated with break-points in the mid-region of the long arm of the X chromosome.

Adult↗
PubMed2026

Estrone disrupts early reproductive development in juvenile male Siniperca chuatsi and is associated with brain and gonadal responses.

Whether estrone (E1)-associated disruption of early reproductive development in fish is accompanied by brain responses in addition to direct gonadal effects remains unclear. Here, juvenile Siniperca chuatsi, a non-model but economically important freshwater species, were exposed for 60 d to 0, 0.01, 0.1, and 1.0 μg/L E1, spanning environmentally reported and elevated concentrations. By integrating waterborne concentration monitoring, histopathology, transcriptomics, and quantitative real-time PCR (qPCR) validation, we evaluated E1-associated changes in brain and gonadal tissues during early reproductive development. Waterborne E1 concentrations remained generally stable throughout the exposure period. At the highest tested concentration (1.0 μg/L), E1 caused neuronal vacuolation and pyknosis in the hypothalamic region and induced distinct ovarian-like structures in the gonads of genetic males. In the brain, cyp19a1, crhr1, and adcy2a were significantly upregulated, whereas egr1 was significantly downregulated, indicating transcriptional changes in genes associated with local estrogen conversion, stress-response/cAMP signaling, and neuronal activity-related regulation within a broader injury/stress-response background. In the gonad, RNA-seq analysis showed significant downregulation of star2, hsd3b1, cyp17a1, and cyp11b and significant upregulation of hsd17b1, suggesting alterations in steroidogenesis-related gene expression at the transcriptomic level. qPCR analysis of selected gonadal candidate genes showed expression directions generally consistent with the RNA-seq results, and these molecular patterns were consistent with the feminized histological phenotype. Together, these results indicate that E1 can disrupt early reproductive development in juvenile S. chuatsi and support a cautious working model in which E1 exposure is accompanied by concurrent brain and gonadal responses. This study provides new evidence for understanding the toxic effects and ecological risk implications of natural estrogen E1 during early fish development.

Animals↗
PubMed1979

The morphology of fetal gonads of spontaneous mouse hermaphrodites.

The gonads of 107 spontaneous, chromosomal mosaic, day-15 fetal hermaphrodites derived from BALB/cWt strain male mice are described and photographs of seven gonads representative of the major types are presented. There were 16 ovaries, 15 testes, and 183 ovotestes. The ovotestes contained on the average more testicular tissue than ovarian, and the ovarian tissue was more frequently located at the gonad poles, particularly the craniad pole. There was no difference between left and right sides with regard to gonad type, but more pure gonads were found on the left than on the right side (21/10), Meioses were observed throughout the ovarian tissue and also in some testicular cords, particularly in the caudad pole of the gonad. Some meiotic figures contained sex vesicles. The significance of these findings is discussed in relation to several aspects of sex determination.

Animals↗
PubMed1979

Brief historical note: the concept of "gonadal dysgenesis".

The history of gonadal by dysgenesis cautions against overinterpretation of data: The streak gonads are neither the result of dysgenesis nor of embryonic origin but represent late fetal/neonatal degeneration; the X-chromatin-negative character of the buccal smear and the frequency of color vision defects did not indicate male sex in the Ullrich-Turner syndrome but rather an XO constitution; severity of dysgenesis did not correlate with risk of gonadal neoplasia but with genotype; the gonadal lesion in the Ullrich-Turner syndrome was not due to a pituitary defect but a primary ovarian lesion; patients with the Noonan syndrome do not have the Turner phenotype. The concept of gonadal dysgenesis, introduced to Kermauner in 1912, has outlived its usefulness. Improved methods of phenotype analysis, family studies, and endocrine and cytogenetic methods have showen it to be causally and pathogenetically heterogeneous and have contributed to a better identification and delineation of the several different genetic entities which it formerly comprised.

Europe↗
PubMed2026

The gonadal matrisome and its correlation with sex change in the ricefield eel Monopterus albus.

The matrisome is a comprehensive list of genes in the genome of an organism, which encodes proteins constituting or interacting with the extracellular matrix (ECM). The gonadal ECM is important for folliculogenesis and spermatogenesis. This study characterized the composition of the matrisome and the expression of matrisome genes in the gonad of ricefield eel, a protogynous sex-changing teleost, during sex change. A total of 838 matrisome genes were identified in the genome of ricefield eel through an in-silico orthology-based approach, of which 482, 443, 429, and 570 matrisome genes were shown to be expressed in the gonads of female (F), early intersexual (EI), mid-intersexual (MI), and late intersexual (LI) fish, respectively. Differentially expressed matrisome genes (DEMGs) were observed across all the sexual stages as well as in each category of ECM components. Analysis of DEMGs in the comparison between EI and F revealed dramatic upregulation of adam8a, mmp9, and s100a11 while downregulation of col4a5, col15a1b, clec3ba, f13a1, and ccl44, which were further confirmed by qPCR analysis. Together, these findings revealed significant changes in the expression of many matrisome genes, particularly three regulator genes, adam8a, mmp9 and f13a1, as female ricefield eels initiate sex change, suggesting that gonadal tissues undergo dramatic remodeling involving the regression of ovarian tissues and the development of testicular tissues to facilitate this process. These data provide valuable resources for further unraveling the roles of matrisome genes in gonadal development of ricefield eel and other vertebrates.

Animals↗
PubMed1979

Ultrastructural events in horse gonadal morphogenesis.

The establishment and sexual differentiation of the gonads of horse embryos were studied using high-resolution techniques. The most dramatic observation is the early cytodifferentiation of the somatic cells into steroidogenic cells which takes place before sexual differentiation of the gonads. A unique morphogenetic pattern is established during this process: the seminiferous cords of the testis are completely segregated from the steroidogenic tissue by a basal lamina, while in the medulla of the ovary, steroidogenic cells differentiate inside the epithelial cords which contain germ cells. This early difference in the topographical distribution of steroidogenic cells favours the hypothesis that the interactions between somatic and germ cells vary with the genetic sex. The possibility of finding qualitative differences in steroidogenesis before and during sexual differentiation of the gonad suggests the horse gonad as a good model for the study of the role of the steroid hormones in the sexual differentiation of the mammalian gonad.

Animals↗
PubMed1979

The streak gonad syndrome.

The streak gonad syndrome is described in detail with a reveiw of the literature and a report on the diagnosis of 38 additional patients. Certain signs and symptoms of the syndrome are always present, ie, female phenotype, primary amenorrhea, infantile breast status, sparse public and axillary hair, infantile external genitalia and vagina, atrophic vaginal smear, immature uterus, high serum follicle-stimulating hormone (FSH) level, low urinary estrogen, retarded ossification, osteoporosis, and the streak gonad. Therefore, they are considered to be cardinal features. Certain somatic anomalies known as associated stigmata occur with varying frequency in accordance with the karyotype. Thus, patients with the streak gonad syndrome can be classified into groups according to their chromosomal complements. It is believed that the term streak gonad syndrome instead of Turner's syndrome, gonadal dysgenesis, or other terms is a much more accurate description of the syndrome, at least from the clinician's point of view.

Adolescent↗
PubMed2026

Unveiling the molecular basis of gonadal development: Multi-omics uncovers sex-related genes and steroid pathways in Sinonovacula constricta.

The razor clam Sinonovacula constricta is an economically important cultured mollusk in China, but the molecular mechanism of its gonadal development and sexual differentiation remains unclear. This study integrated gonadal transcriptomic, proteomic, and metabolomic analysis to identify key sex-related molecules. Transcriptome analysis identified 2795 DELs and 6497 DEGs between sexes, including the sex-related genes Fem-1b, Fem-1c, GUCY1B2 and FAT4, as well as a regulatory network of 39 lncRNA-mRNA pairs involving Tektin-4, Ropporin-1, Histone H1, and FoxN4. Proteomic analysis revealed 3217 DEPs: Tektin family members, Ropporin-1 and Tssk proteins were upregulated in the testis, while histone H1 and FAT4 were upregulated in the ovary. Metabolomic analysis detected 409 DEMs, with uridine identified as a potential sex differential marker (upregulated in the ovary), and 23 gonadal development-related DEMs showed sex-specific upregulation. Integrative transcriptome-proteome analysis identified 1543 co-expressed DEGs/DEPs enriched in nucleosome assembly, oxidative phosphorylation, and carbon metabolism, including key sex-related genes AKAP14, Tektin/Tssk families, Histone H1, and FAT4. Transcriptome-metabolome integration identified 32 shared KEGG pathways (e.g., biosynthesis of unsaturated fatty acids, pyrimidine metabolism), while proteome-metabolome integration revealed 5 (positive ion) and 6 (negative ion) co-enriched pathways, with alanine, aspartate and glutamate metabolism and oxidative phosphorylation being functionally relevant to gonadal development. Collectively, these results reveal the molecular basis of gonadal development, highlight critical sex-related genes and steroid metabolic pathways, and provide valuable resources for future reproduction and breeding in S. constricta.

Animals↗