RESUMO
BACKGROUND: The cause of systemic lupus erythematosus is not completely clear so far, but the prevalence of systemic lupus erythematosus is significantly increased in people with additional X chromosomes. CASE PRESENTATION: We report a 17-year-old Chinese female patient with systemic lupus erythematosus complicated with trisomy X, accompanied by lupus nephritis, pancytopenia, hemolytic anemia, and multiserous effusion. The patient recovered well after treatment and returned regularly. We review the previously reported cases to summarize the clinical characteristics of these patients. CONCLUSION: The additional X chromosome is related to the development of systemic lupus erythematosus. Whether it is a subtype of systemic lupus erythematosus remains to be further confirmed.
Assuntos
Cromossomos Humanos X , Lúpus Eritematoso Sistêmico , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual , Trissomia , Adolescente , Anemia Hemolítica/complicações , Povo Asiático , China , Cromossomos Humanos X/genética , Feminino , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Nefrite Lúpica/complicações , Pancitopenia/complicações , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Trissomia/genéticaRESUMO
Studies have explored the assisted reproductive technology (ART) outcomes of Y-chromosome azoospermia factor c (AZFc) microdeletions, but the effect of sperm source on intracytoplasmic sperm injection (ICSI) remains unknown. To determine the ART results of ICSI using testicular sperm and ejaculated sperm from males with AZFc microdeletions, we searched Embase, Web of Science, and PubMed to conduct a systematic review and meta-analysis. The first meta-analysis results for 106 cycles in five studies showed no significant differences in the live birth rate between the testicular sperm group and the ejaculated sperm group (risk ratio: 0.97, 95% confidence interval [CI]: 0.73-1.28, P = 0.82). The second meta-analysis of 106 cycles in five studies showed no difference in the abortion rate between the testicular sperm group and ejaculated sperm group (risk ratio: 1.06, 95% CI: 0.54-2.06, P = 0.87). The third meta-analysis of 386 cycles in seven studies showed no significant difference in clinical pregnancy rates between the testicular sperm group and the ejaculated sperm group (risk ratio: 1.24, 95% CI: 0.66-2.34, P = 0.50). Inevitable heterogeneity weakened our results. However, our results indicated that testicular sperm and ejaculated sperm yield similar ART outcomes, representing a meaningful result for clinical treatment. More properly designed studies are needed to further confirm our conclusions.
Assuntos
Aptidão Genética/fisiologia , Infertilidade Masculina/terapia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/terapia , Injeções de Esperma Intracitoplásmicas/normas , Espermatozoides/transplante , Adulto , Deleção Cromossômica , Cromossomos Humanos Y , Humanos , Infertilidade Masculina/complicações , Masculino , Estudos Retrospectivos , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Injeções de Esperma Intracitoplásmicas/métodos , Recuperação Espermática , Resultado do TratamentoRESUMO
Tall stature is usually defined as a height beyond 97th percentile or more than 2 SD above the mean height for age and sex in a defined population. Familiar tall stature, also known as constitutional tall stature, is the most common cause of tall stature. Overnutrition, obesity, also usually causes overgrowth. Tall stature by itself is not a pathological condition, however, there are a number of disorders associated with tall stature. Some genetic disorders and syndromes may be associated with mental retardation and various complications. Therefore, recognition of tall stature and revealing the underlying pathogenic causes and making the diagnosis are important not to miss the serious conditions and to provide adequate medical care and genetic counseling. Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious puberty and lipodystrophy, chromosome disorders, such as Trisomy X (47, XXX female), Klinefelter Syndrome (47, XXY), XYY syndrome (47, XYY male) and fragile X syndrome, and syndromes and metabolic disorders, such as Marfan Syndrome, Beckwith-Wiedemann Syndrome, Simpson-Golabi-Behmel Syndrome, Sotos Syndrome and homocystinuria. Children may require growth-reductive treatment if the predicted adult height would be excessive and unacceptable. Some hormonal, high doses of sex steroids, or surgical, bilateral percutaneous epiphysiodesis of the distal femur and proximal tibia and fibula, treatment is currently available to reduce adult height.
Assuntos
Estatura , Transtornos do Crescimento , Adolescente , Algoritmos , Estatura/genética , Criança , Cromossomos Humanos X , Doenças do Sistema Endócrino/complicações , Síndrome do Cromossomo X Frágil/complicações , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/terapia , Humanos , Hipertireoidismo/complicações , Deficiência Intelectual/etiologia , Síndrome de Klinefelter/complicações , Hipernutrição/complicações , Puberdade Precoce/complicações , Valores de Referência , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , TrissomiaRESUMO
An extra X chromosome occurs in ~ 1 in 1000 females, resulting in a karyotype 47,XXX also known as trisomy X syndrome (TXS). Women with TXS appear to be at increased risk for premature ovarian insufficiency; however, very little research on this relationship has been conducted. The objective of this case-control study is to compare ovarian function, as measured by anti-mullerian hormone (AMH) levels, between girls with TXS and controls. Serum AMH concentrations were compared between 15 females with TXS (median age 13.4 years) and 26 controls (median age 15.1 years). Females with TXS had significantly lower serum AMH compared to controls (0.7 ng/mL (IQR 0.2-1.7) vs 2.7 (IQR 1.3-4.8), p < 0.001). Additionally, girls with TXS were much more likely to have an AMH below the 2.5th percentile for age with 67% of them meeting these criteria (OR 11, 95% CI 2.3-42). Lower AMH concentrations in females with TXS may represent an increased risk for primary ovarian insufficiency in these patients and potentially a narrow window of opportunity to pursue fertility preservation options. Additional research is needed to understand the natural history of low AMH concentrations and future risk of premature ovarian insufficiency in girls with TXS.
Assuntos
Reserva Ovariana , Insuficiência Ovariana Primária/fisiopatologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Adolescente , Adulto , Hormônio Antimülleriano/sangue , Estudos de Casos e Controles , Criança , Cromossomos Humanos X , Estradiol/sangue , Feminino , Gonadotropinas/sangue , Humanos , Insuficiência Ovariana Primária/sangue , Insuficiência Ovariana Primária/complicações , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/sangue , Trissomia , Adulto JovemRESUMO
The phenotype of triple X syndrome comprises a variety of physical, psychiatric, and cognitive features. Recent evidence suggests that patients are prone to severe language impairments. However, it remains unclear whether verbal impairments are pervasive at all levels of language, or whether one domain is relatively more spared than others. Here we document the language profile of one patient with triple X, using standardized language tests and reports. Results concur in showing that impairments are noticeable both in expressive and receptive language skills, and in vocabulary as well as in structural components of language. Although receptive ability in some tests appears relatively spared, even here A's performance is clearly below average. This single case study further underscores that language and communication at all levels can be severely compromised in patients with triple X. Practitioners should be aware of the limited language abilities that possibly exist in patients with triple X.
Assuntos
Transtornos do Desenvolvimento da Linguagem/diagnóstico , Testes de Linguagem/normas , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Trissomia/diagnóstico , Criança , Cromossomos Humanos X , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem/etiologia , Masculino , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , VocabulárioRESUMO
Turner syndrome (TS) is one of the most common sex chromosome disorders and is characterized by short stature and gonadal dysgenesis. A few patients with TS achieve normal sexual development, menarche, and even pregnancy. We encountered two cases of Turner syndrome with spontaneous sexual development and menstruation. The patients had different karyotypes, 45,X monosomy and 45,X/47,XXX mosaic TS, and presented with severe anemia due to excessive menstrual bleeding. Abnormal uterine bleeding patterns are expected in patients with primary ovarian insufficiency; however, the menstrual patterns of patients with TS have not been well described in the literature. Here, we describe these cases along with a brief review of the relevant literature.
Assuntos
Menorragia/etiologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Desenvolvimento Sexual , Síndrome de Turner/complicações , Adolescente , Adulto , Anemia Ferropriva/etiologia , Pré-Escolar , Cromossomos Humanos X/genética , Feminino , Humanos , Menarca , Gravidez , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/genética , Síndrome de Turner/genéticaRESUMO
The azoospermia factor (AZF) region is important for spermatogenesis, and deletions within these regions are a common cause of oligozoospermia and azoospermia. Although several studies have reported this cause, the present research, to the best of our knowledge, is the first large-scale study assessing this factor in Japan. In this study, 1030 male patients with infertility who were examined for Y chromosome microdeletion using the polymerase chain reaction-reverse sequence-specific oligonucleotide (PCR-rSSO) method, a newly developed method for Y chromosome microdeletion screening, were included. The study enrolled 250 patients with severe oligospermia and 717 patients with azoospermia. Among the 1030 patients, 4, 4, 10, and 52 had AZFa, AZFb, AZFb+c, and AZFc deletions, respectively. The sperm recovery rate (SRR) of microdissection testicular sperm extraction in patients with AZFc deletions was significantly higher than that in those without AZF deletions (60.0% vs 28.7%, P = 0.04). In patients with gr/gr deletion, SRR was 18.7%, which was lower than that in those without gr/gr deletion, but was not statistically significant. In conclusion, our study showed that the frequency of Y chromosome microdeletion in male patients in Japan was similar to that reported in patients from other countries, and SRR was higher in patients with AZFc deletion.
Assuntos
Infertilidade Masculina/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Adulto , Azoospermia/etiologia , Azoospermia/genética , Deleção Cromossômica , Cromossomos Humanos Y/genética , Humanos , Infertilidade Masculina/complicações , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/epidemiologia , Japão/epidemiologia , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Técnicas de Diagnóstico Molecular , Oligospermia/etiologia , Oligospermia/genética , Reação em Cadeia da Polimerase/métodos , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Recuperação Espermática , Espermatogênese/genética , Adulto JovemRESUMO
The microdeletions of azoospermia factor (AZF) genes in Y chromosome are greatly associated with male infertility, which is also known as the second major genetic cause of spermatogenetic failure. Accumulating studies demonstrate that the different type of AZF microdeletions in patients reflect different clinical manifestations. Therefore, a better understanding of Y chromosome microdeletions might have broad implication for men health. In this study, we sought to determine the frequency and the character of different Y chromosome microdeletion types in infertile men in southwest of China.In total, 1274 patients with azoospermia and oligozoospermia were recruited in southwest of China and screening for Y chromosome microdeletions in AZF regions by multiplex polymerase chain reaction.The incidence of AZF microdeletions in southwest of China is 12.87%, which is higher than the national average. Further investigations unveiled that azoospermia factor c (AZFc) is the most frequent type of all the AZF microdeletions. Additionally, the number and also the quality of sperm in patients with AZFc microdeletion is decreasing with the age. Therefore, it is conceivable that the early testing for Y chromosome microdeletions in infertile men is crucial for fertility guidance.The early detection of Y chromosome microdeletions in infertile men can not only clearly explain the etiology of oligzoospermia and azoospermia, but also help for the clinical management of both infertile man and his future male offspring.
Assuntos
Azoospermia/etiologia , Infertilidade Masculina/diagnóstico , Oligospermia/etiologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Adolescente , Adulto , China , Deleção Cromossômica , Cromossomos Humanos Y , Diagnóstico Precoce , Humanos , Infertilidade Masculina/complicações , Masculino , Pessoa de Meia-Idade , Técnicas de Reprodução Assistida , Estudos Retrospectivos , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Adulto JovemRESUMO
Clinical manifestations of systemic lupus erythematosus (SLE) in female patients with polysomy X have been less characterized as compared to those in male patients. Here, we describe a 28-year-old woman with trisomy X (47,XXX) who developed SLE. She had polyarthritis, hemolytic anemia, and was positive for anti-nuclear and anti-dsDNA antibodies. We discuss the common SLE manifestations with female polysomy X and the possible link between the development of SLE and the presence of extra X-chromosomes.
Assuntos
Lúpus Eritematoso Sistêmico/patologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Adulto , Cromossomos Humanos X/genética , Feminino , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/genética , Lúpus Eritematoso Sistêmico/imunologia , Aberrações dos Cromossomos Sexuais , TrissomiaRESUMO
PURPOSE: To report on the use of endoscopic cyclophotocoagulation (ECP) to treat congenital glaucoma in a triple X female with microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome. OBSERVATIONS: The patient demonstrated linear streaks on the face and neck consistent with dermal aplasia. The corneas were scleralized with ectatic areas of corneal thinning, and the eyes were microphthalmic. Ultrasound biomicroscopy demonstrated congenital aphakia and iris stumps. The patient had elevated intraocular pressure (IOP) that responded to topical glaucoma therapy in the right but not the left eye. Intraoperative endoscopy of the posterior segment revealed multiple hypopigmented chorioretinal lacunae surrounding a pale, cupped optic nerve. ECP of the ciliary processes in the left eye led to marked improvement in IOP. CONCLUSIONS AND IMPORTANCE: Patients with MIDAS syndrome can develop congenital glaucoma secondary to angle dysgenesis. This is the first case report to demonstrate the safe and effective use of ECP to treat elevated IOP in a patient with MIDAS.
Assuntos
Corpo Ciliar/cirurgia , Endoscopia , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Hidroftalmia/cirurgia , Fotocoagulação a Laser , Microftalmia/complicações , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Anormalidades da Pele/complicações , Cromossomos Humanos X , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Humanos , Hidroftalmia/etiologia , Lactente , Pressão Intraocular , Microftalmia/diagnóstico , Microscopia Acústica , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Anormalidades da Pele/diagnóstico , Tonometria Ocular , Trissomia/diagnósticoRESUMO
We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. Previous administration of low dose of gonadotropins, as recommended in patients with HH, led to poor follicular recruitment. Since trisomy X is a risk factor for diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI), higher doses of gonadotropins led to better ovarian response. The report readknowledges the importance of a correct genetic evaluation in a competent laboratory as a reliable base for treatment planning in this kind of patients.
Assuntos
Fertilização in vitro , Hipogonadismo/complicações , Hipogonadismo/terapia , Indução da Ovulação/métodos , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/terapia , Adulto , Cromossomos Humanos X , Feminino , Humanos , Recém-Nascido , Infertilidade Feminina/etiologia , Infertilidade Feminina/terapia , Gravidez , Aberrações dos Cromossomos Sexuais , Resultado do Tratamento , TrissomiaRESUMO
The purpose of this paper is to describe the clinical findings and management of a case involving a patient with co-occurring ring chromosome 14 syndrome and 47,XXX presenting with enamel pit defects and taurodontism. Ring chromosome 14 syndrome is an unusual condition with uncontrolled seizure disorder as its most significant finding; 47,XXX (trisomy X; triple X) is a more common condition and has characteristic physical and behavioral findings. Neither condition has been associated with enamel pit defects.
Assuntos
Esmalte Dentário/anormalidades , Cavidade Pulpar/anormalidades , Cromossomos em Anel , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Anormalidades Dentárias/etiologia , Anestesia Geral , Criança , Cromossomos Humanos Par 14 , Cromossomos Humanos X , Cárie Dentária/diagnóstico por imagem , Cárie Dentária/reabilitação , Cárie Dentária/terapia , Esmalte Dentário/diagnóstico por imagem , Hipoplasia do Esmalte Dentário/diagnóstico por imagem , Epilepsia , Feminino , Humanos , Nova Orleans , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/fisiopatologia , Trissomia/fisiopatologia , Estimulação do Nervo VagoRESUMO
OBJECTIVE: To report on a male patient with complete deletion of azoospermia factor b (AZFb) who presented with severe oligoasthenozoospermia, but who successfully fathered a child via intracytoplasmic sperm injection (ICSI). MATERIALS AND METHODS: Karyotype analysis of peripheral blood lymphocytes was performed by standard G-banding. Y chromosome microdeletions were detected by multiplex polymerase chain reaction amplification using AZF-specific, sequence-tagged site markers. The ICSI procedure was performed using ejaculated motile spermatozoa. RESULTS: Cytogenetic analysis of the patient revealed a normal male karyotype, 46,XY. Multiplex polymerase chain reaction screening showed complete deletion of AZFb demonstrated by the absence of specific sequence-tagged site markers sY121, sY127, sY134, and sY143. Following successful ICSI, an ultrasound scan of the patient's partner revealed a single pregnancy with cardiac activity. A healthy boy was born by cesarean section at 38 weeks of gestation. Genetic testing 2 years later revealed that the infant had inherited his father's AZFb deletion. CONCLUSION: Evidence from this case supports the fact that carriers of AZFb deletions can sometimes produce spermatozoa and father a son with the same AZFb deletion. This possibility reinforces the need for genetic counseling in patients with Y chromosome microdeletions.
Assuntos
Astenozoospermia/genética , Infertilidade Masculina/complicações , Oligospermia/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Adulto , Azoospermia/genética , Deleção Cromossômica , Cromossomos Humanos Y , Humanos , Cariótipo , Masculino , Índice de Gravidade de Doença , Aberrações dos Cromossomos SexuaisRESUMO
PURPOSE: Testicular sperm extraction (TESE) for intracytoplasmic sperm injection (ICSI) was first introduced for the treatment of non-obstructive azoospermia. This study was conducted to detect predictive factors affecting the success of microTESE. MATERIALS AND METHODS: We retrospectively evaluated the results of 191 cases who underwent microTESE. For each patient, the testicular volume, endocrine profile [follicle stimulating hormone (FSH), luteinizing hormone (LH), free testosterone (FT), total testosterone (TT)], serum inhibin B level, karyotype analysis, and Y chromosome microdeletions were recorded, and all data were analyzed to detect any predictors. The receiver operating characteristic curve, two-sample t-test and regression analysis were used for the statistical analysis. RESULTS: The mean age of the patients was 34.4 ± 5.6 years. Sperm retrieval was successful in 104 (54.5%) patients, and there was no sperm in 87 (45.5%). Seven factors including, testicular size, Johnson score, Y chromosome microdeletion, and serum FSH, LH, FT and TT levels were different between the successful and unsuccessful groups. Six patients had Klinefelter syndrome, and ten patients (5.2%) had a Y chromosome microdeletion (5 AZF-c, 1 AZF-b, 2 AZF-bc, 1 AZF-abc, and 1 AZF-ac). The Johnson score, TT level, family history and Y chromosome microdeletions were determined to be independent predictive factors for sperm found. According to the testicular histology, the sperm-found ratios were 36%, 48.6%, and 95.5% in the sertoli cell only syndrome, maturation arrest, and hypospermatogenesis groups, respectively. CONCLUSION: According to our results, the Johnson score, TT level, family history-related infertility, and Y chromosome microdeletions were determined to be independent predictive factors for sperm found.
Assuntos
Azoospermia/etiologia , Azoospermia/cirurgia , Recuperação Espermática , Adulto , Azoospermia/sangue , Deleção Cromossômica , Cromossomos Humanos Y , Dissecação , Hormônio Foliculoestimulante/sangue , Humanos , Infertilidade Masculina , Inibinas/sangue , Cariótipo , Síndrome de Klinefelter/complicações , Hormônio Luteinizante/sangue , Masculino , Microcirurgia , Tamanho do Órgão , Valor Preditivo dos Testes , Estudos Retrospectivos , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Testículo/patologia , Testosterona/sangue , Resultado do TratamentoRESUMO
Trisomic X is a sex chromosomal abnormality that may be presented in mosaic. This is not extremely rare, the majority of cases go undiagnosed. The prevalence has been established to 1/1000 females. It is clinically characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. The association between the trisomic X and gastrointestinal malformations is extremely rare. We report a case of mosaic trisomic X with gastric obstruction expanding the clinical spectrum of this entity and emphasizing its unknown pathogenesis.
Assuntos
Gastroenteropatias/genética , Obstrução Intestinal/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Pré-Escolar , Cromossomos Humanos X/genética , Feminino , Humanos , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/genéticaRESUMO
BACKGROUND: Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. METHODS: Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. RESULTS: She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.
Assuntos
Mosaicismo , Insuficiência Ovariana Primária/etiologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Trissomia/diagnóstico , Síndrome de Turner/diagnóstico , Adulto , Cromossomos Humanos X/metabolismo , Feminino , Humanos , Cariótipo , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/metabolismo , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/fisiopatologia , Trissomia/fisiopatologia , Síndrome de Turner/complicações , Síndrome de Turner/metabolismo , Síndrome de Turner/fisiopatologia , Adulto JovemRESUMO
Increased risk of developing systemic lupus erythematosus (SLE) has been reported in patients with Klinefelter syndrome. Here, we describe a 16-year-old Japanese patient with trisomy X (47,XXX) who developed mixed connective tissue disease (MCTD) and Sjögren's syndrome. She had polyarthritis, edematous fingers with Raynaud's phenomenon, sicca syndrome, interstitial lung disease, possible myositis, and was positive for anti-nuclear antibody, anti-nRNP antibody and rheumatoid factor. This is the first report in the literature of a case of MCTD with female polysomy X, which further supports the link between the presence of extra X chromosome(s) and the development of autoimmune diseases.
Assuntos
Doença Mista do Tecido Conjuntivo/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Síndrome de Sjogren/genética , Adolescente , Anticorpos Antinucleares/análise , Anticorpos Monoclonais Humanizados/administração & dosagem , Cromossomos Humanos X , Feminino , Glucocorticoides/administração & dosagem , Humanos , Japão , Síndrome de Klinefelter/genética , Doença Mista do Tecido Conjuntivo/tratamento farmacológico , Doença Mista do Tecido Conjuntivo/imunologia , Miosite/sangue , Miosite/patologia , Prednisolona/administração & dosagem , Doença de Raynaud/sangue , Doença de Raynaud/patologia , Aberrações dos Cromossomos Sexuais , TrissomiaRESUMO
Trisomy X, the presence of an extra X chromosome in females (47,XXX), is a relatively common but under-recognized chromosomal disorder associated with characteristic cognitive and behavioral features of varying severity. The objective of this study was to determine whether there were neuroanatomical differences in girls with Trisomy X that could relate to cognitive and behavioral differences characteristic of the disorder during childhood and adolescence. MRI scans were obtained on 35 girls with Trisomy X (mean age 11.4, SD 5.5) and 70 age- and sex-matched healthy controls. Cognitive and behavioral testing was also performed. Trisomy X girls underwent a semi-structured psychiatric interview. Regional brain volumes and cortical thickness were compared between the two groups. Total brain volume was significantly decreased in subjects with Trisomy X, as were all regional volumes with the exception of parietal gray matter. Differences in cortical thickness had a mixed pattern. The subjects with Trisomy X had thicker cortex in bilateral medial prefrontal cortex and right medial temporal lobe, but decreased cortical thickness in both lateral temporal lobes. The most common psychiatric disorders present in this sample of Trisomy X girls included anxiety disorders (40%), attention-deficit disorder (17%) and depressive disorders (11%). The most strongly affected brain regions are consistent with phenotypic characteristics such as language delay, poor executive function and heightened anxiety previously described in population-based studies of Trisomy X and also found in our sample.
Assuntos
Transtornos de Ansiedade/patologia , Transtorno do Deficit de Atenção com Hiperatividade/patologia , Encéfalo/patologia , Transtorno Depressivo/patologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia , Trissomia/patologia , Adolescente , Transtornos de Ansiedade/complicações , Transtornos de Ansiedade/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Cromossomos Humanos X , Transtorno Depressivo/complicações , Transtorno Depressivo/psicologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/psicologia , Adulto JovemRESUMO
BACKGROUND: Bladder exstrophy is a rare malformation. Prenatal diagnosis is usually an incidental finding on routine ultrasound examination. Triple-X syndrome (karyotype 47,XXX) is the most frequent sex chromosome aneuploidy in live-born females (approximately 1 in 1000). The diagnosis is often not made because women with 47,XXX karyotype have no or hardly any clinical symptoms during life. METHODS: Prenatal diagnosis of triple X karyotype is usually an incidental finding when an invasive prenatal diagnosis is performed for other reasons. RESULTS: Here, we report on two cases with bladder exstrophy and triple-X syndrome, one in a fetus and one in an adult. In view of two previous reports of this association in literature, causality of these two conditions should be considered. CONCLUSION: A gene dosage effect as possible underlying mechanisms will be discussed.
Assuntos
Extrofia Vesical/genética , Epispadia/genética , Dosagem de Genes/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/genética , Adulto , Extrofia Vesical/diagnóstico por imagem , Extrofia Vesical/etiologia , Cromossomos Humanos X/genética , Epispadia/diagnóstico por imagem , Epispadia/etiologia , Evolução Fatal , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/complicações , UltrassonografiaRESUMO
This report describes a patient with autoimmune myelofibrosis accompanied by Sjögren's syndrome (SS). A 36-year-old woman was admitted due to petechiae, purpura, gingival bleeding, dyspnea on exertion, and a lack of concentration. She had pancytopenia and was diagnosed with SS. A bone marrow study showed hypercellular marrow with reticulin fibrosis. Lymphocytic infiltrates and aggregates composed of a mixture of T and B cells in the marrow were also observed. A chromosomal analysis of the marrow cells showed 47, XXX and an analysis of peripheral lymphocytes revealed 47, XXX/46, XX mosaic results. The patient's cytopenia resolved following treatment with oral prednisolone.