Feminizing Genitoplasty in Congenital Clitoromegaly: A Case Report.

Congenital clitoromegaly, also known as macroclitoris, is a rare congenital disorder. It is a cause of poor self-esteem, anxiety, and gender self-perception. It negatively affects social, romantic, and emotional domains. We present a case of female pseudohermaphroditism with congenital clitoromegaly in a 23-year-old woman who attained late menarche at 22 years of age. Her karyotype was normal (46XX). She had clitoromegaly and a small vaginal opening with labial fusion and scrotalization. We performed feminizing genitoplasty, which included neurovascular sparing clitoroplasty, labioplasty, and vaginoplasty. Follow-up after two weeks revealed feminine genitalia. She is delighted as her ambiguity has been corrected with a good cosmetic effect and is satisfied with the aesthetics, sexual arousal, and self-esteem.

Lunar rhythms and their carry-over effects may shape environmental sex determination in a coral reef fish.

Lunar rhythms shape spawning phenology and subsequent risks and rewards for early life-history stages in the sea. Here, we consider a perplexing spawning phenology of the sixbar wrasse (Thalassoma hardwicke), in which parents spawn disproportionately around the new moon, despite the low survival of these larvae. Because primary sex determination in this system is highly plastic and sensitive to social environments experienced early in development, we ask whether this puzzling pattern of spawning is explained by fitness trade-offs associated with primary sexual maturation. We used otoliths from 871 fish to explore how spawning on different phases of the moon shapes the environments and phenotypes of settling larvae. Offspring that were born at the new moon were more likely to settle (i) before other larvae, (ii) at a larger body size, (iii) at an older age, (iv) to the best quality sites, and (v) as part of a social group-all increasing the likelihood of primary maturation to male. Selection of birthdates across life stage transitions suggests that the perplexing spawning phenology of adults may reflect an evolutionarily stable strategy that includes new moon spawning for compensatory benefits later in life, including preferential production of primary males at certain times.

One-factor sex determination evolves without linkage between feminizing and masculinizing mutations.

The evolution of separate sexes from cosexuality requires at least two mutations: a feminizing allele to cause female development and a masculinizing allele to cause male development. Classically, the double mutant is assumed to be sterile, which leads to two-factor sex determination where male and female sex chromosomes differ at two loci. However, several species appear to have one-factor sex determination where sexual development depends on variation at a single locus. We show that one-factor sex determination evolves when the double mutant develops as a male or a female. The feminizing allele fixes when the double mutant is male, and the masculinizing allele fixes when the double mutant is female. The other locus then gives XY or ZW sex determination based on dominance: for example, a dominant masculinizer becomes a Y chromosome. Although the resulting sex determination system differs, the conditions required for feminizers and masculinizers to spread are the same as in classical models, with the important difference that the two alleles do not need to be linked. Thus, we reveal alternative pathways for the evolution of sex determination and discuss how they can be distinguished using new data on the genetics of sex determination.

A Testis-Specific DMRT1 (Double Sex and Mab-3-Related Transcription Factor 1) Plays a Role in Spermatogenesis and Gonadal Development in the Hermaphrodite Boring Giant Clam Tridacna crocea.

The testis-specific double sex and mab-3-related transcription factor 1 (DMRT1) has long been recognized as a crucial player in sex determination across vertebrates, and its essential role in gonadal development and the regulation of spermatogenesis is well established. Here, we report the cloning of the key spermatogenesis-related DMRT1 cDNA, named Tc-DMRT1, from the gonads of Tridacna crocea (T. crocea), with a molecular weight of 41.93 kDa and an isoelectric point of 7.83 (pI). Our hypothesis is that DMRT1 machinery governs spermatogenesis and regulates gonadogenesis. RNAi-mediated Tc-DMRT1 knockdown revealed its critical role in hindering spermatogenesis and reducing expression levels in boring giant clams. A histological analysis showed structural changes, with normal sperm cell counts in the control group (ds-EGFP) but significantly lower concentrations of sperm cells in the experimental group (ds-DMRT1). DMRT1 transcripts during embryogenesis exhibited a significantly high expression pattern (p < 0.05) during the early zygote stage, and whole-embryo in-situ hybridization confirmed its expression pattern throughout embryogenesis. A qRT-PCR analysis of various reproductive stages revealed an abundant expression of Tc-DMRT1 in the gonads during the male reproductive stage. In-situ hybridization showed tissue-specific expression of DMRT1, with a positive signal detected in male-stage gonadal tissues comprising sperm cells, while no signal was detected in other stages. Our study findings provide an initial understanding of the DMRT1 molecular machinery controlling spermatogenesis and its specificity in male-stage gonads of the key bivalve species, Tridacna crocea, and suggest that DMRT1 predominantly functions as a key regulator of spermatogenesis in giant clams.

Why the Shaw-Mohler equation works and when it doesn't.

Fitness gain curves were introduced into the framework of the Shaw-Mohler equation, the foundation of sex allocation theory. I return to the Shaw-Mohler equation to consider how it embodies the rare-sex advantage underlying frequency-dependent selection on the sex ratio. The Shaw-Mohler formulation is based on the numbers of males and females randomly mating in a panmictic population. Gain curves are meant to describe reproductive success through male and female functions in hermaphrodites and have been inserted in place of male and female numbers in the Shaw-Mohler equation. In doing so, gain curves bypass consideration of the implicit mating process in the Shaw-Mohler argument and can lead to anomalies like unequal total male and female fitness in a population. If gain curves truly represent fitness gain, equality of total male and female fitness requires a constant sex allocation of equal resource investment into male and female functions. The blurring of input with fitness outcome has led to misinterpretation of what gain curves mean in reproductive ecology. They can describe a particular reproductive ecology, such as diminishing fitness returns on resource investment, but lack causal efficacy with respect to sex allocation.

Ovarian malignancy in an individual with 46,XY ovotesticular disorder of sexual development - A case report.

Disorders of sexual development (DSD) are diseases resulting from aberrations in sex chromosomes, gonadal, and internal/external genitalia development resulting in various phenotypes. Ovotesticular DSD represents a rarer entity in this classification of disorders characterized by simultaneous presence of testicular and ovarian tissue. Gonadal tumors in those with DSDs is a known risk, although ovarian masses discovered in adults with ovotesticular DSD is a rare entity and there is little literature pertaining to this population. We present a case of an incidental adnexal mass discovered in an elderly patient ultimately elucidated as a malignant ovarian mass.

Synchronously sexual maturity in hermaphrodite fish as revealed by transcriptome analysis in Plectropomus leopardus.

Leopard coral grouper (Plectropomus leopardus) is a type of hermaphrodite fish, but the mechanisms of gonadal development and gametogenesis remain unclear. In the present study, we performed histological observation and transcriptomic analysis during the process of sexual differentiation in P. leopardus. According to the histological results, sexual differentiation was completed at 15 months old, developed synchronously in male and female individuals at 2 years old, and matured synchronously at 3 years old. Comparative transcriptomic analyses showed that the gonadal had differentiated by 15 months old, with enrichment of pathways associated with cell proliferation, transcriptional metabolism, and germline stem cell differentiation. Furthermore, cilium movement and fatty acid anabolism, which are associated with spermatogenesis and oocyte growth, were significantly enriched at 3 years old. In addition, key genes associated with male and female sex differentiation, such as amh, dmrt1, dmrt2a, zp4, sox3, gdf9, and gsdf, were identified by weighted gene co-expression network analysis (WGCNA). Finally, the localization and expression of the key genes amh and sox3 were observed in different cell types within the testes and ovaries, reflecting the development of the testes and ovaries, respectively. All the evidence indicates that P. leopardus is a hermaphrodite and synchronously sexually mature fish. Our study complements the gonadal development patterns of hermaphroditic fish by providing new insights into the molecular mechanisms underlying sexual differentiation and sex change in hermaphroditic groupers.

Sex-limited experimental evolution drives transcriptomic divergence in a hermaphrodite.

The evolution of gonochorism from hermaphroditism is linked with the formation of sex chromosomes, as well as the evolution of sex-biased and sex-specific gene expression to allow both sexes to reach their fitness optimum. There is evidence that sexual selection drives the evolution of male-biased gene expression in particular. However, previous research in this area in animals comes from either theoretical models or comparative studies of already old sex chromosomes. We therefore investigated changes in gene expression under 3 different selection regimes for the simultaneous hermaphrodite Macrostomum lignano subjected to sex-limited experimental evolution (i.e. selection for fitness via eggs, sperm, or a control regime allowing both). After 21 and 22 generations of selection for male-specific or female-specific fitness, we characterized changes in whole-organism gene expression. We found that female-selected lines had changed the most in their gene expression. Although annotation for this species is limited, gene ontology term and Kyoto Encyclopedia of Genes and Genomes pathway analyses suggest that metabolic changes (e.g. biosynthesis of amino acids and carbon metabolism) are an important adaptive component. As predicted, we found that the expression of genes previously identified as testis-biased candidates tended to be downregulated in the female-selected lines. We did not find any significant expression differences for previously identified candidates of other sex-specific organs, but this may simply reflect that few transcripts have been characterized in this way. In conclusion, our experiment suggests that changes in testis-biased gene expression are important in the early evolution of sex chromosomes and gonochorism.

Chronological Changes in Gonadotropin-Releasing Hormone 1, Gonadotropins, and Sex Steroid Hormones along the Brain-Pituitary-Gonadal Axis during Gonadal Sex Differentiation and Development in the Longtooth Grouper, Epinephelus bruneus.

(1) Fshß and Lhß showed stronger signals and higher transcript levels from 590 to 1050 dph than at earlier stages, implying their active involvement during primary oocyte development. (2) Fshß and Lhß at lower levels were detected during the phases of ovarian differentiation and oogonial proliferation. (3) E2 concentrations increased significantly at 174, 333, and 1435 dph, while T concentrations exhibited significant increases at 174 and 333 dph. These findings suggest potential correlations between serum E2 concentrations and the phases of oogonial proliferation and pre-vitellogenesis.

Sex determination in papaya: Current status and perspectives.

Papaya (Carica papaya L.) is an economically significant plant that produces fruit consumed worldwide due to its organoleptic characteristics. Since their commercial production, papaya fruits have faced several problems, such as pests, which have been partly resolved using transgenic varieties. Nevertheless, a principal challenge in this cultivation is the plant's sex determination. The sex issue in papaya is complex because papaya flowers can bear three sex forms: male, female, and hermaphrodite, which affects their fruit production, shape, and yield. Fruits from hermaphrodite plants are preferred more by consumers than female ones, and male plants rarely produce fruits without commercial value. Chromosomes are responsible for sex determination in papaya, denoted as XY for male, XX for female, and XYh for hermaphrodite. However, genes related to sex have been reported but are not conclusive. Factors such as the environment, hormones, and genetic and epigenetic background can also affect sex expression. Therefore, in this review, we will discuss recent research on the sex of papaya, from reported genes to date, their biology, and sexing approaches using molecular markers and their advantages.

Evolution of sex in crops: recurrent scrap and rebuild.

Sexuality is the main strategy for maintaining genetic diversity within a species. In flowering plants (angiosperms), sexuality is derived from ancestral hermaphroditism and multiple sexualities can be expressed in an individual. The mechanisms conferring chromosomal sex determination in plants (or dioecy) have been studied for over a century by both biologists and agricultural scientists, given the importance of this field for crop cultivation and breeding. Despite extensive research, the sex determining gene(s) in plants had not been identified until recently. In this review, we dissect plant sex evolution and determining systems, with a focus on crop species. We introduced classic studies with theoretical, genetic, and cytogenic approaches, as well as more recent research using advanced molecular and genomic techniques. Plants have undergone very frequent transitions into, and out of, dioecy. Although only a few sex determinants have been identified in plants, an integrative viewpoint on their evolutionary trends suggests that recurrent neofunctionalization events are potentially common, in a "scrap and (re)build" cycle. We also discuss the potential association between crop domestication and transitions in sexual systems. We focus on the contribution of duplication events, which are particularly frequent in plant taxa, as a trigger for the creation of new sexual systems.

Total Vaginectomy in a True Hermaphrodite: A Case Report.

A case is reported herein of a true hermaphrodite (TH) with an ovotestis, a uterus, a vagina, and an underdeveloped phallus. The patient was raised by his parents as a male, based on the presence of a phallus with ambiguous genitalia. He started experiencing breast enlargement at the age of 14 and menarche by the age of 17. He was reviewed using ultrasound, magnetic resonance imaging of the abdomen, and karyotyping, and the reports showed evidence of Mullerian structures and 46 XX karyotyping. Based on the preferences of the patient and his parents and their psychological outlook toward the male gender, a total mastectomy, hysterectomy, bilateral gonadectomy, and total vaginectomy were performed. This was followed by reconstruction of the male genitalia and supplemented with male hormone replacement therapy. Accordingly, a TH was assigned a male gender.

Inheritance and molecular mapping of solitary/cluster fruit-bearing habit in Luffa.

Fruiting behaviour and sex form are important goals for Luffa breeders and this study aimed to shed light upon inheritance patterns for both these traits. The hermaphrodite form of Luffa acutangula (known as Satputia) is an underutilized vegetable with a unique clustered fruiting habit. Its desirable traits, such as plant architecture, earliness, as well as contrasting traits like unique clustered fruiting, bisexual flower, and crossability with Luffa acutangula (monoecious ridge gourd with solitary fruits), make it a potential source for trait improvement and mapping of desirable traits in Luffa. In the present study, we have elucidated the inheritance pattern of fruiting behaviour in Luffa using F2 mapping population generated from a cross between Pusa Nutan (Luffa acutangula, monoecious, solitary fruiting) × DSat-116 (Luffa acutangula, hermaphrodite, cluster fruiting). In F2 generation, the observed distribution of plant phenotypes fitted in the expected ratio of 3:1 (solitary vs cluster) for fruit-bearing habit. This is the first report of monogenic recessive control for cluster fruit-bearing habit in Luffa. Herein, we designate for the first time the gene symbol cl for cluster fruit bearing in Luffa. Linkage analysis revealed that SRAP marker ME10 EM4-280 was linked to the fruiting trait at the distance of 4.6 cM from the Cl locus. In addition, the inheritance pattern of hermaphrodite sex form in Luffa was also studied in the F2 population of Pusa Nutan × DSat-116 that segregated into 9:3:3:1 ratio (monoecious:andromonoecious:gynoecious:hermaphrodite), suggesting a digenic recessive control of hermaphrodite sex form in Luffa, which was further confirmed by the test cross. The inheritance and identification of molecular marker for cluster fruiting trait provides a basis for breeding in Luffa species.

Life history of the endemic Hawaiian hogfish Bodianus albotaeniatus: age, growth and reproduction.

Growth rate, longevity, maturity and spawning seasonality were estimated for the endemic Hawaiian hogfish Bodianus albotaeniatus. The sex-specific von Bertalanffy growth parameters are L∞ = 339 mm fork length (LF ) and K = 0.66 year-1 for females and L∞ = 417 mm LF and K = 0.33 year-1 for males. The maximum age is 22 years. Histological gonad analysis and the absence of small and young males indicate a monandric protogynous hermaphrodite. Size and age at maturity for combined sexes are L50 = 238 mm LF and A50 = 1.6 years.

Pollen production per flower increases with floral display size across animal-pollinated flowering plants.

PREMISE: The number of open flowers on a plant (i.e., floral display size) can influence plant fitness by increasing pollinator attraction. However, diminishing marginal fitness returns with increasing floral display are expected as pollinators tend to visit more flowers per plant consecutively. An extended flower visitation sequence increases the fraction of ovules disabled by self-pollination (ovule discounting) and reduces the fraction of a plant's own pollen that is exported to sire seeds in other plants (pollen discounting). Hermaphroditic species with a genetic system that prevents self-fertilization (self-incompatibility) would avoid ovule discounting and its fitness cost, whereas species without such a genetically based barrier would not. Contrarily, pollen discounting would be an unavoidable consequence of a large floral display irrespective of selfing barriers. Nevertheless, the increasing fitness costs of ovule and pollen discounting could be offset by respectively increasing ovule and pollen production per flower. METHODS: We compiled data on floral display size and pollen and ovule production per flower for 1241 animal-pollinated, hermaphroditic angiosperm species, including data on the compatibility system for 779 species. We used phylogenetic general linear mixed models to assess the relations of pollen and ovule production to floral display size. RESULTS: Our findings provide evidence of increasing pollen production, but not of ovule production, with increasing display size irrespective of compatibility system and even after accounting for potentially confounding effects like flower size and growth form. CONCLUSIONS: Our comparative study supports the pollen-discount expectation of an adaptive link between per-flower pollen production and floral display across animal-pollinated angiosperms.

Characterization of 21 microsatellite loci for the precocious, grass-shrimp trematode Alloglossidium renale.

We developed microsatellite markers to use in studying the population genetics of the trematode Alloglossidium renale, a fluke with a precocious life cycle where sexual maturation occurs in a grass shrimp. Among 21 tested loci in a Mississippi population sample, 14 were polymorphic, 12 of which significantly deviated from Hardy-Weinberg Equilibrium (HWE). We estimated identity disequilibrium (ID) to confirm whether the deviations from HWE were due to significant amounts of selfing or due to technical factors. The selfing rate derived from FIS was 86.6%, whereas the selfing rate obtained by ID was 83.9%, indicating that the deviation in HWE was due to a high amount of selfing within the population. These markers will be useful for ecological and evolutionary studies of A. renale especially in relation to the interplay of hermaphroditic mating systems, inbreeding depression, and transmission dynamics.

Bidirectional sex change and plasticity of gonadal phases in the goby Lubricogobius exiguus.

Of the ca. 500 known hermaphroditic fish species, bidirectional sex change and simultaneous hermaphroditism are currently known in 69 and 57 species, respectively. Both bidirectional sex change and simultaneous hermaphroditism are predicted to evolve when mating opportunities are limited, such as in cases of low-density distribution and low mobility of individuals. However, the plasticity of sex is adaptive in obtaining mating opportunities, especially when there is mate loss. Pair-rearing experiments and histological observations of gonads of the goby Lubricogobius exiguus, which has low-density distributions and low mobility, showed bidirectional sex change. The male-role individuals in pairs had gonads in which only the testis was functional (male-phase), whereas the female-role individuals had two types of gonads: only the ovary was functional (female-phase) or both testis and ovary were functional (simultaneously hermaphroditic phase, SH-phase). In addition, single-rearing experiments showed SH-phase gonads in all individuals, and some cyclic spawning but no self-fertilization occurred. These results revealed that L. exiguus has an unusual sexual pattern among hermaphroditic fishes because they undergo bidirectional sex change and some maintain SH-phase gonads. These findings indicate that the low-density distribution and low mobility of L. exiguus in their natural habitat may have influenced the evolution of this unique sexual pattern.

A case of hermaphroditism in the gonochoristic sea urchin, Strongylocentrotus purpuratus, reveals key mechanisms of sex determination†.

Sea urchins are usually gonochoristic, with all of their five gonads either testes or ovaries. Here, we report an unusual case of hermaphroditism in the purple sea urchin, Strongylocentrotus purpuratus. The hermaphrodite is self-fertile, and one of the gonads is an ovotestis; it is largely an ovary with a small segment containing fully mature sperm. Molecular analysis demonstrated that each gonad producedviable gametes, and we identified for the first time a somatic sex-specific marker in this phylum: Doublesex and mab-3 related transcription factor 1 (DMRT1). This finding also enabled us to analyze the somatic tissues of the hermaphrodite, and we found that the oral tissues (including gut) were out of register with the aboral tissues (including tube feet) enabling a genetic lineage analysis. Results from this study support a genetic basis of sex determination in sea urchins, the viability of hermaphroditism, and distinguish gonad determination from somatic tissue organization in the adult.

Parasites and their impact on thick-shelled river mussels Unio crassus from two populations in Luxembourg.

The thick-shelled river mussel Unio crassus Philipsson, 1788 is a species native to many European habitats, with declining populations. The impact of parasite communities on health status of this species is poorly understood. In this study, parasites of 30 U. crassus specimens from the Our and Sauer Rivers in Luxembourg were identified morphologically and, in some cases, using molecular genetic methods. The findings were correlated to selected parameters (total length, visceral weight, shell lesions, gonadal stage). The 2 populations did not differ in shell length, visceral weight, number of males and females, gonadal scoring, shell lesions, and the occurrence of glochidia. The prevalence and infestation intensities of detected Trichodina sp., Conchophthirus sp., and freshwater mite larvae did not differ between the 2 populations, whereas the prevalence and infestation intensities of mite eggs, nymphs, and adults were significantly higher in the Sauer River. Rhipidocotyle campanula and European bitterling Rhodeus amarus larvae were only present in the Sauer. Histopathology revealed the destruction of the gonads by R. campanula and tissue damage by the mites. The only significant correlation of the selected parameters was a positive correlation between R. amarus occurrence and total length as well as a negative correlation between R. amarus occurrence and gonadal stage. In the Sauer River, 2 mussels were found to be hermaphrodites.