RESUMEN
OBJECTIVE: It was to verify the association between the definition of sex of rearing and, clinical and cytogenetic features among patients with genital ambiguity referred without a sex assignment. METHODS: The sample consisted of 133 patients with genital ambiguity seen at a single reference service. These patients did not have a defined social sex at the first consultation and their etiological diagnosis was obtained during follow-up. RESULTS: A total of 133 cases were included, 74 of which were reared as males and 59 as females. No correlation was found between the year of birth and the year of the first consultation with the definition of sex of rearing. However, the definition of sex of rearing was associated with age at the first consultation, severity of genital ambiguity, presence of palpable gonad(s), presence of uterus on ultrasound, karyotype, and diagnosis. Palpable gonad(s), more virilized genitalia, absence of a uterus on ultrasound, 46, XY karyotype, or a karyotype with sex chromosome abnormalities emerged as strong predictors for defining male sex. All 77 (58 %) patients over 18 years old had a gender identity in accordance with the sex of rearing; though 9 of 77 (12 %) had homo or bisexual orientation, especially girls with Congenital Adrenal Hyperplasia. CONCLUSIONS: Clinical and cytogenetic data were strongly associated with the definition of the sex of rearing of children with genital ambiguity referred to a DSD center without sex assignment. Management in a specialized center allows the establishment of a gender identity in accordance with the sex of rearing.
Asunto(s)
Trastornos del Desarrollo Sexual , Humanos , Masculino , Femenino , Niño , Adolescente , Preescolar , Lactante , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/diagnóstico , Identidad de Género , CariotipificaciónRESUMEN
In mammals, the development of male or female gonads from fetal bipotential gonads depends on intricate genetic networks. Changes in dosage or temporal expression of sex-determining genes can lead to differences of gonadal development. Two rare conditions are associated with disruptions in ovarian determination, including 46,XX testicular differences in sex development (DSD), in which the 46,XX gonads differentiate into testes, and 46,XX ovotesticular DSD, characterized by the coexistence of ovarian and testicular tissue in the same individual. Several mechanisms have been identified that may contribute to the development of testicular tissue in XX gonads. This includes translocation of SRY to the X chromosome or an autosome. In the absence of SRY, other genes associated with testis development may be overexpressed or there may be a reduction in the activity of pro-ovarian/antitesticular factors. However, it is important to note that a significant number of patients with these DSD conditions have not yet recognized a genetic diagnosis. This finding suggests that there are additional genetic pathways or epigenetic mechanisms that have yet to be identified. The text will provide an overview of the current understanding of the genetic factors contributing to 46,XX DSD, specifically focusing on testicular and ovotesticular DSD conditions. It will summarize the existing knowledge regarding the genetic causes of these differences. Furthermore, it will explore the potential involvement of other factors, such as epigenetic mechanisms, in developing these conditions.
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Testículo , Humanos , Masculino , Testículo/patología , Testículo/metabolismo , Animales , Femenino , Trastornos del Desarrollo Sexual 46, XX/genética , Trastornos del Desarrollo Sexual 46, XX/patología , Diferenciación Sexual/genética , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/patologíaRESUMEN
BACKGROUND: The suspicion of a disorder of sex development (DSD) often arises at birth, when the newborn presents with ambiguous genitalia, or even during prenatal ultrasound assessments. Less frequently, the aspect of the external genitalia is typically female or male, and the diagnosis of DSD may be delayed until a karyotype is performed for another health issue, or until pubertal age when a girl presents with absence of thelarche and/or menarche or a boy consults for gynaecomastia and/or small testes. SUMMARY: In this review, we provide a practical, updated approach to clinical and hormonal laboratory workup of the newborn, the child, and the adolescent with a suspected DSD. We focus on how to specifically address the diagnostic approach according to the age and presentation. KEY MESSAGE: We particularly highlight the importance of a detailed anatomic description of the external and internal genitalia, adequate imaging studies or surgical exploration, the assessment of reproductive hormone levels - especially testosterone, anti-Müllerian hormone, 17-hydroxyprogesterone, and gonadotropins - and karyotyping.
Asunto(s)
Trastornos del Desarrollo Sexual , Hipogonadismo , Recién Nacido , Humanos , Masculino , Niño , Femenino , Adolescente , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/genética , Testosterona , Desarrollo Sexual , GenitalesRESUMEN
INTRODUCTION: NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex development (DSD). METHODS: The molecular study involved Sanger sequencing, in vitro assays, and whole exome sequencing (WES). RESULTS: Four variants were identified within the NR5A1 non-coding region in 3 patients with 46,XY DSD. In vitro analyses showed that promoter activity was affected in all cases. WES revealed variants in SRA1, WWOX, and WDR11 genes. DISCUSSION/CONCLUSION: Evaluation of clinical and phenotypic significance of variants located in a non-coding region of a gene can be complex, and little is known regarding their association with DSD. Nevertheless, based on the important region for interaction with cofactors essential to promote appropriated sex development and on our in vitro results, it is feasible to say that an impact on gene expression can be expected and that this may be correlated with the DSD pathophysiology presented in our patients. Considering the number of cases that remain elusive after screening for the well-known DSD related genes, we emphasize the importance of a careful molecular analysis of NR5A1 non-coding region which is commonly neglected and might explain some idiopathic DSD cases.
Asunto(s)
Trastorno del Desarrollo Sexual 46,XY , Trastornos del Desarrollo Sexual , Humanos , Mutación , Trastorno del Desarrollo Sexual 46,XY/genética , Fenotipo , Factor Esteroidogénico 1/genética , Factor Esteroidogénico 1/metabolismo , Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/genéticaRESUMEN
INTRODUCTION: The aim of this retrospective study was to verify the association between the time of diagnosis and initial and final sex assignment in a disorder of sex development (DSD) diagnostic group, looking at the age of the patients at first visit, severity of genital ambiguity, and karyotype. METHODS: The time of diagnosis was divided into 3 groups: before 2000, between 2000 and 2006, and after 2006. Data were categorized and analyzed using the χ2 test with α < 0.05. RESULTS: A total of 567 cases were analyzed; 307 were assigned as male, 135 as female, and 125 remained undefined at the first visit. After clinical and laboratory evaluations, 369 patients were male and 198 were female. Neither initial nor final sex assignment proportions changed over time, but there were significant differences in the age at first visit, with referral occurring at an earlier age, as well as more severe genital ambiguity presentations, a higher proportion of sex chromosome aberrations, and a lower frequency of 46,XX DSD cases. This occurred both in the sample as a whole (567 cases) and in the group of 125 patients without definitive sex assignment at the first visit. The results were similar when only 284 patients aged less than 12 months at the first visit were analyzed. DISCUSSION/CONCLUSION: Over time, there were no changes in sex assignment proportions, but there was an increased awareness of the need for early referral and changes in clinical, cytogenetic, and diagnostic aspects.
Asunto(s)
Trastornos del Desarrollo Sexual , Humanos , Masculino , Femenino , Lactante , Estudios Retrospectivos , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/diagnóstico , Desarrollo Sexual , Cariotipificación , CariotipoRESUMEN
INTRODUCTION: Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles) in the same individual. In SRY-negative 46,XX OT-DSD, the presence of testicular tissue may be due to variations in NR5A1. Our aims were to search for NR5A1 variants in SRY-negative 46,XX OT-DSD patients and to perform a systematic review on the contribution of NR5A1 variations to 46,XX OT-DSD. METHODS: Sanger sequencing of NR5A1 was performed in seven SRY-negative 46,XX OT-DSD patients: five simplex cases and two with another sibling with a 46,XX DSD. Systematic review of original studies on NR5A1 sequencing of 46,XX OT-DSD patients was performed according to PRISMA-P guideline. Case reports were selected for analysis of clinical features. Individuals with NR5A1-associated testicular DSD were not included. RESULTS: Sanger sequencing of NR5A1 did not reveal pathogenic variants among our patients. Our cohort was included in this systematic review with seven other articles, totalizing fifty-six 46,XX OT-DSD patients investigated by Sanger or whole-exome sequencing. From them, three NR5A1 pathogenic variants were identified (5% of the cases). Clinical analysis of these 3 cases and 5 case reports revealed: predominance of ovotestis (13/16 gonads) and bilateral OT-DSD (5/8 cases). CONCLUSION: The etiology of most 46,XX OT-DSD cases remains elusive, highlighting the importance of a deeper molecular investigation.
Asunto(s)
Trastornos del Desarrollo Sexual , Trastornos Ovotesticulares del Desarrollo Sexual , Factor Esteroidogénico 1 , Humanos , Masculino , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/patología , Gónadas , Metaanálisis como Asunto , Trastornos Ovotesticulares del Desarrollo Sexual/genética , Trastornos Ovotesticulares del Desarrollo Sexual/patología , Factor Esteroidogénico 1/genética , Testículo/patologíaRESUMEN
Anti-müllerian hormone (AMH) is 1 of the 2 testicular hormones involved in male development of the genitalia during fetal life. When the testes differentiate, AMH is secreted by Sertoli cells and binds to its specific receptor type II (AMHR2) on the müllerian ducts, inducing their regression. In the female fetus, the lack of AMH allows the müllerian ducts to form the fallopian tubes, the uterus, and the upper part of the vagina. The human AMH gene maps to 19p13.3 and consists of 5 exons and 4 introns spanning 2,764 bp. The AMHR2 gene maps to 12q13.13, consists of 11 exons, and is 7,817 bp long. Defects in the AMH pathway are the underlying etiology of a subgroup of disorders of sex development (DSD) in 46,XY patients. The condition is known as the persistent müllerian duct syndrome (PMDS), characterized by the existence of a uterus and fallopian tubes in a boy with normally virilized external genitalia. Approximately 200 cases of patients with PMDS have been reported to date with clinical, biochemical, and molecular genetic characterization. An updated review is provided in this paper. With highly sensitive techniques, AMH and AMHR2 expression has also been detected in other tissues, and massive sequencing technologies have unveiled variants in AMH and AMHR2 genes in hitherto unsuspected conditions.
Asunto(s)
Hormona Antimülleriana , Trastorno del Desarrollo Sexual 46,XY , Trastornos del Desarrollo Sexual , Receptores de Péptidos , Receptores de Factores de Crecimiento Transformadores beta , Femenino , Humanos , Masculino , Hormona Antimülleriana/genética , Trastorno del Desarrollo Sexual 46,XY/genética , Trastornos del Desarrollo Sexual/genética , Conductos Paramesonéfricos , Desarrollo Sexual , Receptores de Péptidos/genética , Receptores de Factores de Crecimiento Transformadores beta/genéticaRESUMEN
OBJECTIVE: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different methods. Our aim was to stand out the utility of urothelial cells for unravelling complex and hidden cell lines in DSD patients. CASE REPORT: Herein we report on a 19-year-old female with primary amenorrhea, short stature without ambiguous external genitalia. She had a 45,X/46, XY karyotype in leukocytes. Interphase FISH revealed hidden 45,X/47,XYY/47,XXY/46,XY/46, XX mosaicism in leukocytes and urothelial cells. CONCLUSION: These findings highlight the importance of investigating sex chromosome mosaicism in other tissues. Of particular interest in cases of DSD are the cells from the urinary epithelium, which may reflect the cell composition of the urogenital ridge, the analysis of these cells should be considered within the clinical assessment of DSD patients.
Asunto(s)
Amenorrea/congénito , Trastornos del Desarrollo Sexual/diagnóstico , Mosaicismo , Aberraciones Cromosómicas Sexuales , Cromosomas Sexuales/genética , Análisis Citogenético , Trastornos del Desarrollo Sexual/genética , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipo , Cariotipificación , Leucocitos/citología , Urotelio/citología , Adulto JovenRESUMEN
Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia. Congenital disorders affecting adrenal function may be associated with DSD in both 46,XX and 46,XY individuals, but the pathogenic mechanisms differ. While in 46,XX cases, the adrenal steroidogenic disorder is responsible for the genital anomalies, in 46,XY patients DSD results from the associated testicular dysfunction. Primary adrenal insufficiency, characterized by a reduction in cortisol secretion and overproduction of ACTH, is the rule. In addition, patients may exhibit aldosterone deficiency leading to salt-wasting crises that may be life-threatening. The trophic effect of ACTH provokes congenital adrenal hyperplasia (CAH). Adrenal steroidogenic defects leading to 46,XX DSD are 21-hydroxylase deficiency, by far the most prevalent, and 11ß-hydroxylase deficiency. Lipoid Congenital Adrenal Hyperplasia due to StAR defects, and cytochrome P450scc and P450c17 deficiencies cause DSD in 46,XY newborns. Mutations in SF1 may also result in combined adrenal and testicular failure leading to DSD in 46,XY individuals. Finally, impaired activities of 3ßHSD2 or POR may lead to DSD in both 46,XX and 46,XY individuals. The pathophysiology, clinical presentation and management of the above-mentioned disorders are critically reviewed, with a special focus on the latest biomarkers and therapeutic development.
Asunto(s)
Hiperplasia Suprarrenal Congénita/fisiopatología , Insuficiencia Suprarrenal/fisiopatología , Trastornos del Desarrollo Sexual/fisiopatología , Hiperplasia Suprarrenal Congénita/genética , Insuficiencia Suprarrenal/genética , Trastornos del Desarrollo Sexual/genética , Humanos , Diferenciación Sexual/fisiologíaRESUMEN
Male-to-female sex reversal in horses is a developmental disorder in which phenotypic females have a male genetic constitution. Male-to-female sex reversal is the second most common genetic sex abnormality, after X chromosome monosomy. All male-to-female sex reversal cases studied to date have been found to be infertile. Therefore, a screening test is particularly useful in laboratories doing DNA genotyping in horses. Our laboratory has tested > 209,000 horses for parentage using a panel of microsatellite markers and the sex marker gene amelogenin (AMEL). Suspect XY sex reversal cases are reported females with a male profile by AMEL testing. After routine genotyping, 49 cases were detected and further tested using the sex-determining region Y (SRY) gene, confirming the XY SRY-negative genotype of suspect sex reversal cases. When some inconsistencies arose in the initial result, a molecular panel of X- and Y-linked markers was analyzed for these samples. Of the 49 cases, 33 were confirmed as XY SRY-negative. The remaining 16 cases were identified as false-positives as a result of anomalies of AMEL testing in horses.
Asunto(s)
Trastornos del Desarrollo Sexual/veterinaria , Técnicas de Genotipaje/veterinaria , Enfermedades de los Caballos/diagnóstico , Factores de Transcripción SOX/genética , Amelogenina/genética , Animales , ADN/genética , Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/genética , Femenino , Genotipo , Técnicas de Genotipaje/normas , Enfermedades de los Caballos/genética , Caballos , MasculinoRESUMEN
Disorders (or differences) of sex development (DSD) are a heterogeneous group of congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired gonadal development is central to the pathogenesis of the majority of DSDs and therefore a clear understanding of gonadal development is essential to comprehend the impacts of these disorders on the individual, including impacts on future fertility. Gonadal development was traditionally considered to involve a primary 'male' pathway leading to testicular development as a result of expression of a small number of key testis-determining genes. However, it is increasingly recognized that there are several gene networks involved in the development of the bipotential gonad towards either a testicular or ovarian fate. This includes genes that act antagonistically to regulate gonadal development. This review will highlight some of the novel regulators of gonadal development and how the identification of these has enhanced understanding of gonadal development and the pathogenesis of DSD. We will also describe the impact of DSDs on fertility and options for fertility preservation in this context.
Asunto(s)
Trastornos del Desarrollo Sexual/metabolismo , Preservación de la Fertilidad/métodos , Fertilidad , Animales , Criopreservación/métodos , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/terapia , Femenino , Gónadas/citología , Gónadas/metabolismo , Gónadas/fisiología , Humanos , MasculinoRESUMEN
Nuclear receptor subfamily 5 group A member 1 (NR5A1), also named steroidogenic factor 1, is an essential transcription factor that regulates a number of target genes crucial for normal reproductive physiology and endocrine function. It is encoded by NR5A1 gene and is expressed in high doses mainly in steroidogenic tissues, where it controls several steps of adrenal and gonadal development. NR5A1 mutations are associated with a wide phenotypic spectrum of disorders/differences of sex development (DSD), a group of conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Here, we reviewed 188 NR5A1 mutations from 238 cases reported in literature so far. Additionally, we report the variations p.Ser4*, p.(Cys55Ser), p.(Met78Leu), and p.Met98Glyfs*45, which have not been annotated for NR5A1 before and were identified in some of the 205 46,XY patients of our own cohort. This is the first NR5A1 mutation review which includes both 46,XX and 46,XY karyotype, with the purpose of discussing the complexity of genotype-phenotype correlations among DSD and infertile male patients and also females with primary ovarian failure.
Asunto(s)
Trastornos del Desarrollo Sexual/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Infertilidad/genética , Mutación , Factor Esteroidogénico 1/genética , Adolescente , Alelos , Niño , Preescolar , Bases de Datos Genéticas , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/genética , Trastornos del Desarrollo Sexual/diagnóstico , Femenino , Estudios de Asociación Genética/métodos , Genotipo , Humanos , Lactante , Recién Nacido , Infertilidad/diagnóstico , Cariotipo , Masculino , FenotipoRESUMEN
Disorders of sex development (DSDs) are congenital conditions in which the external appearance of the individual does not coincide with the chromosomal constitution or the gonadal sex. In other words, there is an ambiguous or intermediate condition between the male and female phenotypes of the anatomical sex. These atypical conditions are manifested in several ways, ranging from genital ambiguity to phenotypes that are so attenuated that they can go unnoticed or appear normal. Currently, there is a lack of understanding of the factors responsible for these outcomes; however, they are likely to be conditioned by genetic, hormonal and environmental factors during prenatal and postnatal development. The present study determined the genetic etiology of DSDs in Colombian patients by conventional cytogenetic analysis, FISH and MLPA (for SF1, DAX1, SOX9, SRY and WNT4). A cohort of 43 patients with clinical phenotypes of sex development disorder was used in the present study. Using this multistep experimental approach, a diagnostic percentage of 25.58% was obtained: 17 patients (39.53%) were classified as having gonadal development disorders, the majority of which were ovotesticular disorders with numerical and/or structural alterations of the sex chromosomes, 9 patients (20.93%) were classified as having testicular DSD with a 46,XY karyotype, and 3 patients (6.98%) as having ovarian DSD with a 46,XX karyotype. The remaining 14 patients (32.56%) were classified as 'other' since they could not be grouped into a specific class of gonadal development, corresponding to hypospadias and multiple congenital anomalies. These findings highlight the importance of histological and cytogenetic studies in a gonadal biopsy. In 11/43 cases, the multistep experimental protocol presented in the present study yielded etiological or histological findings that could be used to define the medical management of patients with DSDs. In conclusion, for the etiological diagnosis of DSDs, a broadspectrum approach that includes endocrinological tests, conventional karyotyping, molecular karyotyping by FISH and, molecular tests is required, in addition to gonadal tissue analyses, to identify genetic alterations.
Asunto(s)
Cariotipo Anormal , Cromosomas Humanos X/genética , Cromosomas Humanos Y/genética , Trastornos del Desarrollo Sexual/genética , Adolescente , Adulto , Niño , Preescolar , Trastornos del Desarrollo Sexual/patología , Femenino , Humanos , Lactante , Recién Nacido , Cariotipificación , Masculino , Persona de Mediana EdadRESUMEN
Androgens and anti-Müllerian hormone (AMH), secreted by the foetal testis, are responsible for the development of male reproductive organs and the regression of female anlagen. Virilization of the reproductive tract in association with the absence of Müllerian derivatives in the XX foetus implies the existence of testicular tissue, which can occur in the presence or absence of SRY. Recent advancement in the knowledge of the opposing gene cascades driving to the differentiation of the gonadal ridge into testes or ovaries during early foetal development has provided insight into the molecular explanation of XX maleness.
Asunto(s)
Trastornos del Desarrollo Sexual/genética , Diferenciación Sexual/genética , Animales , Feto/embriología , Humanos , Masculino , Mamíferos/embriología , Modelos BiológicosRESUMEN
Sexual differentiation and early gonadal development are critical events in vertebrate reproduction. In this study, the initial testis development and expression of the Vasa, Nanos2 and Sox9 proteins were examined in Nile tilapia Oreochromis niloticus submitted to induced sex reversal. To that end, 150O. niloticus larvae at 5 days post-hatching (dph) were kept in nurseries with no hormonal addition (control group) and 150 larvae were kept with feed containing 17α-methyltestosterone to induce male sex reversal (treated group). Morphological sexual differentiation of Nile tilapia occurred between 21 and 25 dph and sex reversal resulted in 94% males, whereas the control group presented 53% males. During sexual differentiation, gonocytes (Gon) were the predominant germ cells, which decreased and disappeared after that stage in both groups. Undifferentiated spermatogonia (Aund) were identified at 21 dph in the control group and at 23 dph in the treated group. Differentiated spermatogonia (Adiff) were found at 23 dph in both groups. Vasa and Nanos2 occurred in Gon, Aund and Adiff and there were no significant differences between groups. Vasa-labelled Adiff increased at 50 dph in both groups and Nanos2 presented a high proportion of labelled germ cells during sampling. Sertoli cells expressed Sox9 throughout the experiment and its expression was significantly greater during sexual differentiation in the control group. The results indicate that hormonal treatment did not alter initial testis development and expression of Vasa and Nanos2 in Nile tilapia, although lower expression of Sox9 and a delay in sexual differentiation was detected in the treated group.
Asunto(s)
Cíclidos/genética , ARN Helicasas DEAD-box/genética , Trastornos del Desarrollo Sexual/genética , Proteínas de Unión al ARN/genética , Factor de Transcripción SOX9/genética , Testículo/crecimiento & desarrollo , Animales , Diferenciación Celular/genética , Cíclidos/crecimiento & desarrollo , ARN Helicasas DEAD-box/metabolismo , Trastornos del Desarrollo Sexual/metabolismo , Trastornos del Desarrollo Sexual/veterinaria , Femenino , Regulación del Desarrollo de la Expresión Génica , Gónadas/crecimiento & desarrollo , Gónadas/metabolismo , Masculino , Proteínas de Unión al ARN/metabolismo , Factor de Transcripción SOX9/metabolismo , Diferenciación Sexual/genética , Testículo/metabolismoRESUMEN
Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the NR3C4 gene, which encodes the androgen receptor (AR). In this study, we performed mutational analyses to identify AR molecular defects, in individuals with 46,XY disorders of sex development (46,XY DSD) and a presumptive diagnosis of AIS. Eighteen different gene mutations, including seven previously unreported new variants, were detected in 26 unrelated cases. These included two deletion mutations (P49fs*185 and E308f*320) in exon 1 and five substitution mutations (p.S792P, p.D829G, p.R832P, p.L839F, and p.K906E) located in the steroid-binding domain. Expression analyses of mutants generated by site-directed mutagenesis indicated that these new gene variants impaired AR function by affecting its binding activity. Seventeen of 18 mutations likely lead to reduced or absent responses to androgens, which may in turn account for the different degrees of undermasculinization observed. Our study provides insight into the functional consequences of these mutations.
Asunto(s)
Síndrome de Resistencia Androgénica/genética , Trastornos del Desarrollo Sexual/genética , Receptores Androgénicos/genética , Diferenciación Sexual/genética , Adolescente , Adulto , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Humanos , Lactante , Masculino , México , Mutación/genética , Adulto JovenRESUMEN
Two new records of gynandromorphs in Xylocopa Latreille, 1802 (Hymenoptera, Apidae). Gynandromorphs are deviant morphological individuals with genetically distinct male and female tissues. Records of sex anomalies seems to be important to better understand the mechanisms regulating phenotypic expression. Herein, two new cases of gynandromorphs in carpenter bee species of Xylocopa from Brazil are described and figured: a mixed gynandromorph of the X. (Neoxylocopa) brasilianorum (Linnaeus, 1767) from São Paulo and a bilateral gynandromorph of the X. (Neoxylocopa) ordinaria Smith, 1874 from Sergipe.
Asunto(s)
Animales , Himenópteros/anatomía & histología , Procesos de Determinación del Sexo/genética , Trastornos del Desarrollo Sexual/genéticaRESUMEN
Two new records of gynandromorphs in Xylocopa Latreille, 1802 (Hymenoptera, Apidae). Gynandromorphs are deviant morphological individuals with genetically distinct male and female tissues. Records of sex anomalies seems to be important to better understand the mechanisms regulating phenotypic expression. Herein, two new cases of gynandromorphs in carpenter bee species of Xylocopa from Brazil are described and figured: a mixed gynandromorph of the X. (Neoxylocopa) brasilianorum (Linnaeus, 1767) from São Paulo and a bilateral gynandromorph of the X. (Neoxylocopa) ordinaria Smith, 1874 from Sergipe.(AU)
Asunto(s)
Animales , Himenópteros/anatomía & histología , Procesos de Determinación del Sexo/genética , Trastornos del Desarrollo Sexual/genéticaRESUMEN
Genetic tools such as microarray and next-generation sequencing have initiated a new era for the diagnosis and management of patients with disorders of sex development (DSDs). These tools supplement the traditional approach to the evaluation and care of infants, children, and adolescents with DSDs. These tests can detect genetic variations known to be associated with DSDs, discover novel genetic variants, and elucidate novel mechanisms of gene regulation. Herein, we discuss these tests and their role in the management of patients with DSDs.