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1.
Bull Environ Contam Toxicol ; 105(5): 728-735, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33079216

RESUMO

Imposex is a phenomenon widely associated with environmental exposure to organotin compounds which were quite common components of antifouling paints applied on boats and ship hulls. Here we study the incidence of imposex in neogastropods and its relation with water quality and maritime traffic in the coastal strip of Santa Marta, Colombia. Imposex was determined via specialized indexes and related to the organisms' size, somatic conditions, variables of water quality and maritime traffic, in a space-time assessment. There was evidence of imposex in five species Plicopurpura patula, Vasula deltoidea, Stramonita haemastoma, S. floridana, and Gemophos auritulus. Purpura patula and Vasula deltoidea species were found in all sampling sites. The results have proved that imposex is highly influenced by the maritime traffic variable, with greater prevalence during the dry season, and with P. patula being more sensitive than V. deltoidea.


Assuntos
Transtornos do Desenvolvimento Sexual/induzido quimicamente , Monitoramento Ambiental/métodos , Gastrópodes/efeitos dos fármacos , Compostos Orgânicos de Estanho/toxicidade , Poluentes Químicos da Água/toxicidade , Animais , Região do Caribe , Colômbia , Feminino , Gastrópodes/crescimento & desenvolvimento , Masculino , Pintura , Estações do Ano , Qualidade da Água
3.
PLoS One ; 15(10): e0240088, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33035248

RESUMO

OBJECTIVES: To describe the health of intersex adults (people with differences of sex development) in the U.S. using community-based research methods. METHODS: In July-September 2018, we conducted a national health study of intersex adults aged 18 and older in the U.S., using a survey hosted on Qualtrics. The study describes the physical and mental health experiences of intersex adults, including differences by age (18 to 39 vs. 40 and older). Questions were derived from national (Behavioral Risk Factor Surveillance System) and intersex-related health studies. RESULTS: A non-probability sample of 198 intersex adults completed the survey over three months. Over 43% of participants rated their physical health as fair/poor and 53% reported fair/poor mental health. Prevalent health diagnoses included depression, anxiety, arthritis, and hypertension, with significant differences by age. Nearly a third reported difficulty with everyday tasks and over half reported serious difficulties with cognitive tasks. CONCLUSIONS: To our knowledge, this is the first national study of intersex adults in the U.S. Greater understanding of intersex health over the life course is essential. Findings highlight the need for longitudinal studies and further examination of potential health disparities experienced by intersex populations.


Assuntos
Transtornos do Desenvolvimento Sexual/psicologia , Nível de Saúde , Saúde Mental , Adolescente , Adulto , Idoso , Transtornos de Ansiedade/epidemiologia , Transtornos de Ansiedade/patologia , Depressão/epidemiologia , Depressão/patologia , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Estados Unidos/epidemiologia , Adulto Jovem
5.
PLoS One ; 15(8): e0238256, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32866176

RESUMO

In recent years, the binary definition of sex is being challenged by repetitive reports about individuals with ambiguous sexual identity from various animal groups. This has created an urge to decode the molecular mechanism underlying sexual development. However, sexual ambiguities are extremely uncommon in nature, limiting their experimental value. Here, we report the establishment of a genetically modified clone of Daphnia magna from which intersex daphniids can be readily generated. By mutating the conserved central sex determining factor Doublesex1, body-wide feminization of male daphniid could be achieved. Comparative transcriptomic analysis also revealed a genetic network correlated with Doublesex1 activity which may account for the establishment of sexual identity in D. magna. We found that Dsx1 repressed genes related to growth and promoted genes related to signaling. We infer that different intersex phenotypes are the results of fluctuation in activity of these Dsx1 downstream factors. Our results demonstrated that the D. magna genome is capable of expressing sex in a continuous array, supporting the idea that sex is actually a spectrum.


Assuntos
Daphnia/genética , Daphnia/fisiologia , Transtornos do Desenvolvimento Sexual/genética , Redes Reguladoras de Genes/genética , Desenvolvimento Sexual/genética , Sequência de Aminoácidos , Animais , Genoma/genética , Fenótipo , Transcriptoma/genética
6.
Mar Pollut Bull ; 159: 111474, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32738638

RESUMO

Tributyltin (TBT) was a commonly used biocide in anti-fouling paints for marine vessels, however, it had negative impacts on non-target species, including causing imposex in dogwhelks (Nucella lapillus). Since the 1980s, legislation has been introduced to curtail its usage, culminating in a ban by the International Maritime Organisation (IMO) in 2008. In 2004 a national imposex monitoring network was established in Northern Ireland to determine the level and extent of TBT pollution. The level of imposex in N. lapillus was assessed according to the degree of male sexual development in the female using three measures: percentage of imposex-affected females (%I), the relative penis size index (RPSI), and the vas deferens sequence index (VDSI). All sites showed improvement since the initial survey with a reduction in imposex and an improvement in ecological quality under the classification of the Convention for the Protection of the Marine Environment of the North-East Atlantic (OSPAR).


Assuntos
Transtornos do Desenvolvimento Sexual , Gastrópodes , Compostos de Trialquitina , Poluentes Químicos da Água/análise , Animais , Monitoramento Ambiental , Feminino , Masculino , Irlanda do Norte , Inquéritos e Questionários
7.
Pediatr Endocrinol Rev ; 17(3): 243-249, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32741155

RESUMO

BACKGROUND: Ovotesticular Difference of Sex Development (OT DSD) is a rare condition characterized by histologic demonstration of ovarian and testicular tissue in the same individual. Descriptions in literature usually do not include long term follow-up data. OBJECTIVES: The aim of this study is to describe clinical, biochemical and histological findings, as well as long term outcomes (including onset and progression of puberty) in patients with OT DSD. RESULTS: In a retrospective study of 31 patients, findings include predominantly male gender assignment at the time of referral (54.8%) and subsequent female gender of rearing (54.8%). The most frequent karyotype was 46,XX (58.1%). Ovotestis was the most frequent gonad (48.4%) Puberty could be evaluated in 20 patients, being spontaneous in 12 of them. Four patients with partial gonadectomy in infancy were able to enter female puberty spontaneously. CONCLUSION: It was observed that patients who preserved gonadal tissues were able to enter puberty spontaneously.


Assuntos
Transtornos do Desenvolvimento Sexual , Transtornos Ovotesticulares do Desenvolvimento Sexual , Feminino , Humanos , Masculino , Puberdade , Estudos Retrospectivos
8.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 49(3): 297-301, 2020 May 25.
Artigo em Chinês | MEDLINE | ID: mdl-32762157

RESUMO

OBJECTIVE: To investigate the efficacy and safety of aromatase inhibitor letrozole in treatment of male children with disorders of sex development (DSD). METHODS: Clinical data of 12 male DSD children with a mean age of 14.6±2.5 years admitted to Peking Union Medical College Hospital from January 2014 to January 2016 were retrospectively analyzed. The patients were treated with letrozole (1.25-2.5 mg, once a day) for 3 months or longer, and followed up for 0.5-2.5 years. Clinical manifestation and laboratory test findings were documented, and the efficacy and safety were evaluated. RESULTS: After half-year treatment, the blood luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone levels of patients increased (all P < 0.05), and estrogen levels decreased from baseline ( P < 0.05). After 1 year of treatment, the blood testosterone level was significantly higher ( P < 0.05); the LH and FSH levels tended to increase and the estrogen level tended to decrease, but there was no significant statistical difference ( P>0.05). Semen was routinely detected in 8 patients, and sperms were detected in semen of 3 patients with hypospadias. There were no significant changes in biochemical results after treatment, and no significant adverse event was observed during the treatment. CONCLUSIONS: Letrozole can effectively increase testosterone levels in patients with disorders of sex development and promote spermatogenesis, it has no significant adverse effects in short-term administration.


Assuntos
Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Letrozol/uso terapêutico , Adolescente , Criança , Hormônio Foliculoestimulante , Humanos , Hormônio Luteinizante , Masculino , Estudos Retrospectivos , Testosterona
9.
Mar Pollut Bull ; 158: 111408, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32753192

RESUMO

Imposex is a condition in which females of dioecious marine snails develop rudimentary male characteristics. It is caused by tributyltin (TBT) used as an antifoulant in vessel paints since the late 1960s. Following the 2008 international ban on TBT, a decreasing rate of imposex has been observed worldwide. In Western Australia, imposex surveys of the whelk Thais orbita up to 2011 in the Perth metropolitan area suggested a decreasing trend but a significant recovery has not been confirmed. Collection of T. orbita from 11 sites in 2019 demonstrated a virtually complete recovery from imposex. Although it is generally accepted that male snails are not affected by TBT, the historical data set allowed confirmation that the male penis is of similar size in T. orbita collected at heavily affected sites and at relatively unaffected sites. Similarly, imposexed female snails had similar shell lengths to female snails at non-impacted sites.


Assuntos
Transtornos do Desenvolvimento Sexual , Gastrópodes , Compostos de Trialquitina , Poluentes Químicos da Água/análise , Animais , Monitoramento Ambiental , Feminino , Masculino , Tailândia , Austrália Ocidental
11.
J Urol ; 204(4): 841-842, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32697133
12.
J Urol ; 204(4): 841, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32697134
14.
Zhonghua Yi Xue Za Zhi ; 100(22): 1699-1703, 2020 Jun 09.
Artigo em Chinês | MEDLINE | ID: mdl-32536088

RESUMO

Objective: To investigate the novel genetic cause associated with hypospadias and the strategy for preventing offspring genetic defects in these patients. Methods: In March 2019, a patient with gonadal dysplasia (hypospadias associated with cryptorchidism) was referred to Shanghai General Hospital. His secondary sex characters, level of sex hormones and the development of male reproductive system was assessed through physical examination, sex hormone examination, male reproductive system B-ultrasound and computed tomography (CT). Whole-exome sequencing (WES) was preformed to investigate the pathogenic genetic variations associated with hypospadias and cryptorchidism. Also, Sanger sequencing was conducted to verify the WES results in the pedigree. Semen analysis was used to assess the fertility of the proband and the SRD5A2 gene analysis of his spouse was performed to assess the risk of genetic defects in the offspring. Results: The patient suffered from gonadal dysplasia (hypospadias associated with cryptorchidism). Physical examination showed an inverted triangular distribution of pubic hair, small penis and the volume of the testis was 8 ml. Sex hormone examination revealed the level of FSH, LH, Pituitary prolactin (PRL), estrogen (E(2)), testosterone (T), and sex hormone-binding globulin (SHBG) was 25.81 U/L, 10.84 U/L, 21.09 µg/L, 153 pmol/L, 16.95 nmol/L, and 36.15 nmol/L respectively. B-ultrasound and computed tomography (CT) showed left inguinal testis. Also, semen analysis illustrated that the volume was 0.05 ml and sperm concentration<2×10(6)/ml, suggesting oligospermia in this case. WES sequencing and Sanger sequencing showed compound heterozygous LoF mutations in SRD5A2 [NM_000348.3:C.679C>T(p.Arg227Ter) and NM_000348.3:C.16C>T(p.Gln6Ter)] in this patient. And there were no pathogenic genetic variations of SRD5A2 in the spouse. Conclusion: Novel compound heterozygous LoF mutations in SRD5A2[NM_000348.3:C.679C>T(p.Arg227Ter) and NM_000348.3:C.16C>T(p.Gln6Ter)] may be the primary cause of disorders of sex development.


Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Criptorquidismo , Transtornos do Desenvolvimento Sexual , Proteínas de Membrana/genética , China , Transtornos do Desenvolvimento Sexual/genética , Humanos , Masculino , Mutação , Globulina de Ligação a Hormônio Sexual , Testosterona
15.
Eur J Endocrinol ; 183(3): 275-284, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32567554

RESUMO

Objective: To evaluate the pathogenic role of a few benign variants and hypomorphic pathogenic variants in SRD5A2. Design and methods: We retrospectively analyzed phenotypes and genotypes in 23 Indian patients with genetically proven steroid 5α-reductase 2 (SRD5A2) deficiency. The interactions of the SRD5A2 enzymes resulting due to the most common benign variant (p.Val89Leu), the most common (hypomorphic) pathogenic variant (p.Arg246Gln) and the double variants (p.Val89Leu and p.Arg246Gln) in SRD5A2 were compared with that of the wild type (WT) enzyme by molecular dynamics (MD) simulation. Results: The majority (n = 19, 82.61%) of patients presented for atypical genitalia and had male gender identity (16/20). Including the two novel ones (p.Leu83Pro, p.Ala28Leufs*103), a total of nine different pathogenic variants were observed. p.Arg246Gln was the most common pathogenic variant (n = 12). Homozygous p.Arg246Gln (n = 9) variant was associated with milder undervirilization (Sinnecker score of ≤3a: 8/9 vs 6/14, P = 0.04) and had concurrent homozygous p.Val89Leu in all patients. Interestingly, asymptomatic fathers of two index patients were homozygous for p.Arg246Gln which questioned the pathogenicity of the variation as a sole factor. Unlike all symptomatic homozygous p.Arg246Gln patients who were also homozygous for p.Val89Leu, asymptomatic homozygous p.Arg246Gln fathers were heterozygous for p.Val89Leu. On MD simulation SRD5A2 p.Val89Leu-Testeosterone (T) and SRD5A2 p.Arg246Gln-T complexes, but not SRD5A2 p.Val89Leu and p.Arg246Gln-T complex, demonstrated close interaction between NADPH and T as that of SRD5A2 WT-T. Conclusions: p.Arg246Gln may not be pathogenic as a sole variation even in the homozygous state; additional contribution of homozygous p.Val89Leu variant may be essential for the pathogenicity of p.Arg246Gln in SRD5A2.


Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Transtornos do Desenvolvimento Sexual/enzimologia , Homozigoto , Adolescente , Adulto , Criança , Pré-Escolar , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/patologia , Feminino , Identidade de Gênero , Genótipo , Humanos , Índia , Lactente , Recém-Nascido , Masculino , Simulação de Dinâmica Molecular , Mutação/genética , NADP/metabolismo , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Estudos Retrospectivos , Adulto Jovem
16.
J Urol ; 204(5): 1054-1061, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32379566

RESUMO

PURPOSE: Many individuals with differences of sex development experience subfertility. We describe a novel gonadal tissue cryopreservation protocol for those individuals. MATERIALS AND METHODS: Before 2018 patients with differences of sex development electing gonadal tissue cryopreservation were enrolled in a cancer focused protocol. Thereafter, our hospital developed a protocol specifically for these patients undergoing gonadectomy due to neoplasia risk. Protocol development steps and procedures are reported. A retrospective chart review was conducted for patient characteristics and cryopreservation choices. RESULTS: During the institutional review board approval process there were multidisciplinary meetings with stakeholders. The main concerns discussed included preoperative counseling, pathological evaluation and final tissue disposition. Detailed multidisciplinary preoperative counseling is provided regarding potential gonadal tissue cryopreservation for patients undergoing gonadectomy. For enrolled patients the gonad is bisected after removal, with half being sent to pathology and half being processed for cryopreservation. If neoplasia is noted, cryopreserved tissue is recalled for further pathological analysis. Postoperative counseling is performed after pathology results are available, and the final gonadal tissue cryopreservation decision is made. During the study period 7 patients with 5 diagnoses and a median age of 10.99 years (IQR 1.29 to 14.84) elected to attempt gonadal tissue cryopreservation. Of the patients 4 (57%) had germ cells and elected to store tissue. CONCLUSIONS: Gonadal tissue cryopreservation at the time of gonadectomy is feasible for patients with differences of sex development at risk for gonadal neoplasia. The protocol described represents a template for institutions wishing to offer gonadal tissue cryopreservation to patients electing gonadectomy. More than half of patients thus far have cryopreserved gonadal tissue.


Assuntos
Protocolos Clínicos/normas , Criopreservação/normas , Transtornos do Desenvolvimento Sexual/cirurgia , Preservação da Fertilidade/normas , Infertilidade Feminina/terapia , Ovário , Adolescente , Criança , Pré-Escolar , Aconselhamento/normas , Transtornos do Desenvolvimento Sexual/complicações , Estudos de Viabilidade , Feminino , Preservação da Fertilidade/métodos , Humanos , Lactente , Infertilidade Feminina/etiologia , Estudos Retrospectivos
17.
Handchir Mikrochir Plast Chir ; 52(4): 297-307, 2020 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-32428939

RESUMO

BACKGROUND: The goals of penile reconstruction and phalloplasty include aesthetics as natural as possible and the ability of patients to void while standing and to have sexual intercourse. This article presents two more rare indications and techniques, the phalloplasty using free radial forearm flapin case of intersexuality and after penectomy due to penis carcinoma. PATIENTS AND METHODS: In transsexual individuals numerous phalloplasties in Gottlieb and Levine`s technique, by means phalloplasty of free radial forearm-flap of the non-dominant forearm, were performed in our department over the last few years. However, this technique also has its significance for phalloplasty in non-transgender persons.Two patients are considered in detail with regard to indication and surgical technique and were followed up in a multimodal setting.Patient 1 is genetically male, thirty-five years old with a micropenis in the case of pseudohermaphroditism masculine and androgen resistance.Patient 2 is a fifty-one-year old genetically male and as a result of a penis carcinoma his penis had to be amputated at the level of penis root. After absence of recurrence for 1,5 years, the penile reconstruction took place after complete resection of the remaining residual penile stump and corpora cavernosa. Both patients underwent multimodal follow-up 15 months postoperatively with regard to phalloplasty sensors and donor-site restrictions. RESULTS: An aesthetic and functional acceptable result could be obtained for both patients. Both patients are able to void while standing. The multimodal follow-up 15 months postoperatively revealed relevant differences in the sensory findings of both patients, which are due to the different anatomy of reinnervation. CONCLUSION: In microsurgical experienced departments, the technique of A. radialis phalloplasty can also be used successfully in more rare indications, as shown here, a satisfying result can be achieved in terms of function and aesthetics. The complications shown here do not differ from those using phalloplasty in transgender persons.


Assuntos
Transtornos do Desenvolvimento Sexual , Procedimentos Cirúrgicos Reconstrutivos , Adulto , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Pênis/cirurgia , Retalhos Cirúrgicos/cirurgia
18.
J Urol ; 204(4): 835-842, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32302259

RESUMO

PURPOSE: The medical terminology applied to differences/disorders of sex development has been viewed negatively by some affected individuals. A clinical population of patients with differences/disorders of sex development and their caregivers were surveyed regarding current nomenclature, hypothesizing that those unaffiliated with support groups would have more favorable attitudes. MATERIALS AND METHODS: We recruited English and Spanish speaking patients 13 years old or older with differences/disorders of sex development and their caregivers at 5 national tertiary care clinics from July 2016 to December 2018. No diagnoses were excluded. Participants completed a survey rating terminology commonly applied to differences/disorders of sex development. Responses were compared between subgroups, including members vs nonmembers of a support group. RESULTS: Of 185 potential participants approached 133 completed the survey (72% response rate). Congenital adrenal hyperplasia (33%) was the most common diagnosis. "Variation of sex development" was the most liked term (37%) but was not liked more significantly than "disorders of sex development" (27%, p=0.16). No term was liked by a majority of respondents. "Disorders of sex development" (37%) and "intersex" (53%) were the only terms most frequently viewed unfavorably. Support group members were significantly more likely to dislike the term "intersex" (p=0.02) and to like "variation of sex development" (p=0.02). CONCLUSIONS: A clinical population of patients and their caregivers had generally neutral attitudes toward nomenclature applied to differences/disorders of sex development. Members of a support group had clearer terminology preferences. "Variation of sex development" was the most liked term, and "disorders of sex development" and "intersex" were the most disliked. No term was liked by most respondents, and no clear alternative to the present nomenclature was identified.


Assuntos
Atitude Frente a Saúde , Cuidadores/psicologia , Transtornos do Desenvolvimento Sexual , Pacientes/psicologia , Terminologia como Assunto , Adolescente , Estudos Transversais , Feminino , Humanos , Masculino
19.
Obstet Gynecol ; 135(5): 1198-1206, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32282607

RESUMO

OBJECTIVE: To assess the causes of reported discordance between noninvasive prenatal testing (NIPT) and ultrasound or other clinical information. METHODS: In this retrospective, observational study, all cases in which single-nucleotide polymorphism (SNP)-based NIPT reported normal sex chromosomes and the laboratory was notified by the patient or health care provider of discordance between NIPT and observed or expected fetal sex from clinical information were reviewed. When discordances were unresolved after internal and external laboratory clerical data review or repeat ultrasound imaging, additional clinical records, genetic testing results and pregnancy outcomes were reviewed. RESULTS: Of the 1,301,117 eligible NIPT cases, fetal sex discordances were reported in 91 (0.007%; 1:14,300; 95% CI 1:11,600-1:17,800); partial or complete outcome information was available for 83 of 91 cases. In 30 of 83 (36%) cases, karyotyping was performed, and sufficient clinical information was provided to establish the diagnosis of disorders of sexual development. The disorders of sexual development were classified into three categories: 46,XY disorders of sexual development (n=19), 46,XX disorders of sexual development (n=4), and sex chromosome disorders of sexual development (n=7). In 28 of 83 (34%) cases, the cause of the apparent discrepancy was attributable to human error, predominantly phlebotomy labeling or ultrasound misassignment. In 25 of 83 cases, a diagnosis was not possible; the outcome reported was either abnormal (18/83, 22%) or no abnormalities were reported (7/83, 8%). When normal sex chromosomes were predicted by SNP-based NIPT and clinical information was discordant, disorders of sexual development were common. Internal laboratory clerical data review and re-imaging confirmed the NIPT fetal sex reports in 34% cases, providing reassurance that no further evaluation was necessary. CONCLUSION: Identification of apparent fetal sex discordances with NIPT results, and reporting this suspicion to the laboratory, provides an opportunity for further evaluation to identify the cause of apparent discordances and the involvement of a multi-disciplinary team, as necessary to prepare for postnatal care. We propose a protocol for evaluation of these cases. FUNDING SOURCE: This study was funded by Natera, Inc.


Assuntos
Erros de Diagnóstico/estatística & dados numéricos , Transtornos do Desenvolvimento Sexual/diagnóstico , Teste Pré-Natal não Invasivo/estatística & dados numéricos , Análise para Determinação do Sexo/estatística & dados numéricos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto , Transtornos do Desenvolvimento Sexual/embriologia , Transtornos do Desenvolvimento Sexual/genética , Feminino , Humanos , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez , Resultado da Gravidez , Estudos Prospectivos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Análise para Determinação do Sexo/métodos
20.
J Hum Genet ; 65(8): 705-709, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32277176

RESUMO

Sex-chromosome discordant chimerism (XX/XY chimerism) is a rare chromosomal disorder in humans. We report a boy with ambiguous genitalia and hypospadias, showing 46,XY[26]/46,XX[4] in peripheral blood cells. To clarify the mechanism of how this chimerism took place, we carried out whole-genome genotyping using a SNP array and microsatellite analysis. The B-allele frequency of the SNP array showed a mixture of three and five allele combinations, which excluded mosaicism but not chimerism, and suggested the fusion of two embryos or a shared parental haplotype between the two parental cells. All microsatellite markers showed a single maternal allele. From these results, we concluded that this XX/XY chimera is composed of two different paternal alleles and a single duplicated maternal genome. This XX/XY chimera likely arose from a diploid maternal cell that was formed via endoduplication of the maternal genome just before fertilization, being fertilized with both X and Y sperm.


Assuntos
Quimera/genética , Quimerismo , Transtornos do Desenvolvimento Sexual/genética , Partenogênese/genética , Transtornos dos Cromossomos Sexuais/genética , Alelos , Transtornos do Desenvolvimento Sexual/diagnóstico por imagem , Haplótipos , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Repetições de Microssatélites/genética , Mosaicismo , Análise de Sequência com Séries de Oligonucleotídeos , Polimorfismo de Nucleotídeo Único , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/sangue , Transtornos dos Cromossomos Sexuais/diagnóstico por imagem
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