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1.
Medicine (Baltimore) ; 99(37): e22124, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32925763

RESUMO

RATIONALE: This study aimed to report 1 family case with novel Y chromosome structural variations by an established next-generation sequencing (NGS) method using unique STSs. PATIENT CONCERNS: The case studied was from a family with a father and son (the proband). G-band staining was used for karyotype analysis. Y chromosome microdeletions were detected by sequence-tagged site (STS)-PCR analysis and a new NGS screening strategy. DIAGNOSES: Semen analysis showed that the proband was azoospermic. The patient had an abnormal karyotype (45,X[48%]/46,XY[52%]). His father exhibited a normal karyotype. STS-PCR analysis showed that the proband had a deletion of the AZFb+c region, and his father had no deletion of STS markers examined. The sequencing method revealed that the patient had DNA sequence deletions from nt 20099846 to nt 28365090 (8.3 Mb), including the region from yel4 to the Yq terminal, and his father exhibited a deletion of b1/b3 and duplication of gr/gr. INTERVENTIONS: The proband was advised to undergo genetic counseling, and consider the use of sperm from a sperm bank or adoption to become a father. OUTCOMES: The proband was azoospermic. AZFc partial deletions may produce a potential risk for large AZFb+c deletions or abnormal karyotypes causing spermatogenic failure in men. LESSONS: The NGS method can be considered a clinical diagnostic tool to detect Y chromosome microdeletions. The partial AZFc deletions and/or duplications can be a risk of extensive deletions in offspring.


Assuntos
Infertilidade Masculina/diagnóstico , Infertilidade Masculina/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Y/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariotipagem , Masculino , Sitios de Sequências Rotuladas , Aberrações dos Cromossomos Sexuais
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 182-185, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034751

RESUMO

OBJECTIVE: To perform prenatal diagosis for two fetuses carrying partial deletion of Y chromosome. METHODS: Routine G- and C-banding were carried out to analyze the chromosomal karyotypes of the fetuses and their fathers. Fetal DNA was also subjected to low-coverage massively parallel copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), SRY gene and AZF factor testing. RESULTS: Both fetuses showed a 46, XN, del(Y) (q11.2) karyotype at 320-400 band level by the analysis of amniotic fluid chromosomes. FISH with Y chromosome centromere probe indicated that in both cases the number of Y chromosome was normal. Both fathers had an apparently normal karyotype at 320-400 band level. For fetus 1, CNV-seq test revealed a 12.88 Mb deletion at Yq11.221-q12, which encompassed the whole of AZFb+AZFc regions and may lead to male infertility, sperm deficiency and/or severe oligospermia. In fetus 2, CNV-seq also detected a 14.84 Mb deletion at Yq11.21-q12, which encompassed the whole of the AZF region and may lead to severe spermatogenesis disorder resulting in severe oligoasthenospermia and azoospermia. In both cases, testing of SRY gene was positive. No point mutation of the SRY gene was identified. Analysis of amniotic fluid DNA confirmed partial or total absence of AZF in the two fetuses, respectively. CONCLUSION: Combined use of various technologies can enable accurate detection of structural abnormalities of the Y chromosome and facilitate genetic counseling. CNV-seq can help with rapid screening of Y chromosome microdeletions and may be used as a complementary test for chromosomal karyotyping.


Assuntos
Cromossomos Humanos Y , Oligospermia , Deleção Cromossômica , Variações do Número de Cópias de DNA , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Infertilidade Masculina , Masculino , Gravidez , Diagnóstico Pré-Natal , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual
3.
Cytogenet Genome Res ; 160(1): 18-21, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32008001

RESUMO

Multiple isodicentric Y chromosomes [idic(Y)] is a rare cytogenetic abnormality, most exclusively described in constitutional karyotypes. Only recently has this entity been reported in hematologic neoplasms such as myeloid disorders, albeit these cases remain very scarce. The possible involvement of increasing copies of potential proto-oncogenes located on the multiple idic(Y) led to consider one of them, CRLF2, as a target for kinase inhibitors. We report here, to our knowledge, the first case of multiple idic(Y) in a patient with myelofibrosis secondary to essential thrombocythemia. The patient received ruxolitinib therapy with initial good clinical response.


Assuntos
Cromossomos Humanos Y/genética , Mielofibrose Primária/complicações , Aberrações dos Cromossomos Sexuais , Trombocitemia Essencial/complicações , Idoso , Alelos , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Cariotipagem , Masculino , Mosaicismo , Contagem de Plaquetas , Mielofibrose Primária/genética , Prognóstico , Pirazóis/uso terapêutico , Receptores de Citocinas/genética , Trombocitemia Essencial/genética
4.
Braz J Med Biol Res ; 53(3): e8980, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32077464

RESUMO

The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91% (14/734) of patients with a chromosomal abnormality. There were ten cases (71.43%, 10/14) of 45,X mosaicism exhibiting AZF microdeletions. Case 1 and Case 4 had AZFc deletions, and the other eight cases had AZFb+c deletions. A high frequency of Y chromosome microdeletions were detected in male patients with 45,X/46,XY mosaicism. Preimplantation genetic diagnosis should be offered to men having intracytoplasmic sperm injection for hypospermatogenesis caused by 45,X/46,XY mosaicism, to avoid the risk of transfering AZF microdeletions in addition to X monosomy in male offspring.


Assuntos
Infertilidade Masculina/genética , Mosaicismo , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adulto , China , Deleção Cromossômica , Cromossomos Humanos Y/genética , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Aberrações dos Cromossomos Sexuais
5.
Gene ; 735: 144389, 2020 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-31982552

RESUMO

Azoospermia factors, located in the long arm of the Y chromosome, are critical for spermatogenesis, the microdeletions of AZF are considered to be associated with male infertility. In addition to complete deletion, several AZFc partial deletions were also detected in infertile men with wide phenotypic heterogeneity. In this study, we investigated the relevance of Y chromosome deletions, Y-linked CNVs and variable phenotypes in infertile men. To clarify the relationship between phenotypic heterogeneity and Y chromosome deletion in male infertility, we performed chromosomal microarray analysis (CMA) capable of analyzing thousands of loci simultaneously to investigate Y-linked copy number variations (CNVs). Firstly, we reviewed the results of Y chromosome screening in 554 infertile patients and then compared the results of CMA to routine Y chromosome screening in 29 patients with Y chromosomal microdeletions. Then, the Y-linked CNVs associated with oligoasthenospermia were identified according to ACMG standards and guidelines. The results indicated that the prevalence of Yq microdeletions was 5.23% (29/554), with 93% (27/29) of the deletions in the AZFc region among 554 infertile men recruited in this study. The results of CMA and multiplex-PCR-based AZFc deletion analysis were generally concordant, but CMA provided more details about location, size and OMIM genes involved in deletion fragments of the AZF region. Of 29 clinically infertile phenotype-related CNVs detected by CMA, nine were pathogenic and the remaining 20 CNVs were OVUS. Except for a 15.69 Mb loss CNV in AZFa + b + c and an 8.25 Mb loss CNV in AZFb + c, others were located in the AZFc region. Based on a combination of the clinical symptoms and loss CNVs, we concluded that the CNV size and the involvement of spermatogenesis critical genes are two important factors that determine the relevance of a CNV in the AZFc region to the presence or absence of a clinically infertile phenotype.


Assuntos
Azoospermia/genética , Variações do Número de Cópias de DNA , Infertilidade Masculina/genética , Oligospermia/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adulto , Azoospermia/patologia , Deleção Cromossômica , Cromossomos Humanos Y/genética , Humanos , Infertilidade Masculina/patologia , Masculino , Oligospermia/patologia , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia
8.
Cytogenet Genome Res ; 159(3): 137-142, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31786569

RESUMO

Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell lines and the absence of 46,XX and 48,XXX,+14 cell lineages. The patient showed most of the clinical characteristics of mosaic trisomy 14. Analysis of autosomal DNA markers in the proband's blood sample did not support the presence of chimerism. Further analysis of chromosome X DNA markers suggests that the extra X chromosome most probably arose as a consequence of nondisjunction in meiosis II in the maternal lineage.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos X , Mosaicismo , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/genética , Cromossomos Humanos Par 14 , Cromossomos Humanos X/genética , Feminino , Humanos , Recém-Nascido , Aberrações dos Cromossomos Sexuais
9.
Biomedica ; 39(4): 622-630, 2019 12 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31860174

RESUMO

In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper. This was a male adult patient seen at the Servicio de Paternidades, Instituto de Genética, Universidad Nacional de Colombia. The following procedures were carried out: Amelogenin gene and short tandem repeat analyses using human identification commercial kits, conventional karyotype, SRY fluorescent in situ hybridization, PCR analysis for Y chromosome microdeletions, clinical evaluation, and genetic counseling. We present an adult male with unambiguous genitalia, karyotype 46,XX, and an SRY negative and ZFY positive molecular profile. The diagnosis of nonsyndromic 46,XX testicular disorder of sex development (DSD) -a rare genetic condition- was established. Only 20 % of similarly diagnosed patients are SRY negative and exhibit diverse molecular profiles. Until now, available evidence seems to indicate that, even in the absence of SRY, the ZFY factor is involved in male sexual differentiation.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/genética , Genes sry , Genitália Masculina/anatomia & histologia , Adulto , Amelogenina/análise , Deleção Cromossômica , Cromossomos Humanos Y/genética , Eletroforese Capilar , Genótipo , Humanos , Hibridização in Situ Fluorescente , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/genética , Cariotipagem , Fatores de Transcrição Kruppel-Like/análise , Fatores de Transcrição Kruppel-Like/genética , Masculino , Repetições de Microssatélites , Técnicas de Amplificação de Ácido Nucleico , Linhagem , Reação em Cadeia da Polimerase/métodos , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
10.
J Neurodev Disord ; 11(1): 40, 2019 12 20.
Artigo em Inglês | MEDLINE | ID: mdl-31861974

RESUMO

OBJECTIVES: Our ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the proximal and distal information processes that utilize these representations. Impairment of spatial and temporal information processing likely underpins the non-verbal cognitive impairments observed in 22q11.2 deletion syndrome (22q11DS). The present study builds on prior research by seeking to quantify the resolution of spatial and temporal representation in children with 22q11DS, sex chromosome aneuploidy (SCA), and a typically developing (TD) control group. PARTICIPANTS AND METHODS: Children (22q11DS = 70, SCA = 49, TD = 46) responded to visual or auditory stimuli with varying difference ratios. The participant's task was to identify which of two sequentially presented stimuli was of larger magnitude in terms of, size, duration, or auditory frequency. Detection threshold was calculated as the minimum difference ratio between the "standard" and the "target" stimuli required to achieve 75% accuracy in detecting that the two stimuli were different. RESULTS: Children with 22q11DS required larger magnitude difference between spatial stimuli for accurate identification compared with both the SCA and TD groups (% difference from standard: 22q11DS = 14; SCA = 8; TD: 7; F = 8.42, p < 0.001). Temporal detection threshold was also higher for the 22q11DS group to both visual (% difference from standard: 22q11DS = 14; SCA = 8; TD = 7; F = 8.33, p < 0.001) and auditory (% difference from standard: 22q11DS = 23; SCA = 12; TD: 8; F = 8.99, p < 0.001) stimuli compared with both the SCA and TD groups, while the SCA and TD groups displayed equivalent performance on these measures (p's > 0.05). Pitch detection threshold did not differ among the groups (p's > 0.05). CONCLUSIONS: The observation of higher detection thresholds to spatial and temporal stimuli indicates further evidence for reduced resolution in both spatial and temporal magnitude representation in 22q11DS, that does not extend to frequency magnitude representation (pitch detection), and which is not explained by generalized cognitive impairment alone. These findings generate further support for the hypothesis that spatiotemporal hypergranularity of mental representations contributes to the non-verbal cognitive impairment seen in 22q11DS.


Assuntos
Atenção/fisiologia , Percepção Auditiva/fisiologia , Síndrome de DiGeorge/fisiopatologia , Conceitos Matemáticos , Transtornos da Percepção/fisiopatologia , Aberrações dos Cromossomos Sexuais , Percepção Espacial/fisiologia , Percepção do Tempo/fisiologia , Percepção Visual/fisiologia , Adolescente , Criança , Síndrome de DiGeorge/complicações , Feminino , Humanos , Masculino , Transtornos da Percepção/etiologia
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1120-1122, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703140

RESUMO

OBJECTIVE: To report on a case of maternally derived 45,X mosaicism detected by non-invasive prenatal testing (NIPT). METHODS: Fetal sex chromosomal abnormality was detected by NIPT. Maternally derived 45,X mosaicism was confirmed by chromosome karyotype analysis. Fetal sex chromosome aneuploidy was detected by amniotic fluid chromosome microarray analysis. RESULTS: A maternal 45,X mosaicism was diagnosed. The fetus was confirmed to be normal. CONCLUSION: Maternal 45,X masaicism can be diagnosed by NIPT.


Assuntos
Mosaicismo , Diagnóstico Pré-Natal , Aberrações dos Cromossomos Sexuais , Aneuploidia , Feminino , Humanos , Cariotipagem , Gravidez
12.
BMC Med Genet ; 20(1): 172, 2019 11 07.
Artigo em Inglês | MEDLINE | ID: mdl-31699048

RESUMO

BACKGROUND: Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent. CASE PRESENTATION: Here, we reported a woman whose karyotype was 46, XX, t (1;17)(q42;q21), has obtained 5 embryos by intracytoplasmic sperm injection (ICSI) after one cycle of in vitro fertility (IVF). After microarray-based comparative genomic hybridization (array-CGH) for preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR), two embryos were balanced, one balanced embryo was implanted and the patient successfully achieved pregnancy. Amniocentesis was performed at the 19th week of gestation for karyotype analysis and single nucleotide polymorphism (SNP)-array test. The result of karyotype analysis was: mos 47, XXY [19]/46, XY [81]; SNP-array results revealed 46, XY, iUPD (9) pat. After full genetic counseling for mosaic Klinefelter's syndrome and paternal iUPD (9), the couple decided to continue pregnancy, and the patient gave birth to a healthy boy. The newborn is now 3.5 years old, and developed normally. This case will provide counseling evidences of paternal iUPD (9) for doctors. CONCLUSIONS: This is the first case report of paternal iUPD9 with mosaic Klinefelter's syndrome, and no abnormality has been observed during the 3.5-year follow-up. Further observation is required to determine whether the imprinted genes on the chromosomes are pathogenic and whether recessive pathogenetic genes are activated.


Assuntos
Fenótipo , Diagnóstico Pré-Implantação , Aberrações dos Cromossomos Sexuais , Dissomia Uniparental , Adulto , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 17 , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Translocação Genética
13.
Nat Commun ; 10(1): 4897, 2019 10 25.
Artigo em Inglês | MEDLINE | ID: mdl-31653860

RESUMO

Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals, a disease characteristic termed variable expressivity. Recently, the aggregate effect of common variation, quantified as polygenic scores (PGSs), has emerged as an effective tool for predictions of disease risk and trait variation in the general population. Here, we measure the effect of PGSs on 11 RGDs including four sex-chromosome aneuploidies (47,XXX; 47,XXY; 47,XYY; 45,X) that affect height; two copy-number variant (CNV) disorders (16p11.2 deletions and duplications) and a Mendelian disease (melanocortin 4 receptor deficiency (MC4R)) that affect BMI; and two Mendelian diseases affecting cholesterol: familial hypercholesterolemia (FH; LDLR and APOB) and familial hypobetalipoproteinemia (FHBL; PCSK9 and APOB). Our results demonstrate that common, polygenic factors of relevant complex traits frequently contribute to variable expressivity of RGDs and that PGSs may be a useful metric for predicting clinical severity in affected individuals and for risk stratification.


Assuntos
Estatura/genética , Índice de Massa Corporal , LDL-Colesterol/sangue , Herança Multifatorial , Obesidade/genética , Doenças Raras/genética , Apolipoproteínas B/genética , Transtorno Autístico/genética , LDL-Colesterol/genética , Deleção Cromossômica , Transtornos Cromossômicos/genética , Duplicação Cromossômica/genética , Cromossomos Humanos Par 16/genética , Cromossomos Humanos X/genética , Feminino , Humanos , Hiperlipoproteinemia Tipo II/genética , Hipobetalipoproteinemias/genética , Deficiência Intelectual/genética , Síndrome de Klinefelter/genética , Masculino , Pessoa de Meia-Idade , Pró-Proteína Convertase 9/genética , Receptor Tipo 4 de Melanocortina/deficiência , Receptor Tipo 4 de Melanocortina/genética , Receptores de LDL/genética , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Trissomia/genética , Síndrome de Turner/genética , Cariótipo XYY/genética
14.
Reprod Domest Anim ; 54 Suppl 4: 98-101, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31625227

RESUMO

The main aim of this study was to document the prevalence of chromosomal aberrations found to date on the pig population in Spain, a country in which this production sector has a critical role, being the fourth country in the world in pig production and the second one within the European Union. The total number of animals studied was 849, and the founded frequency of carrier pigs with chromosomal alterations was 3.8%. When only the structural alterations were considered, the prevalence in males was 3.3%. This percentage is far from the 0.5% of carrier boars that has been estimated in France, a country where there is a systematic cytogenetic screening of future breeding pigs since 1992. In order to avoid the productive and economic losses caused by karyotype alterations in breeding pigs, it would be important to establish a cytogenetic screening of breeding animals at artificial insemination centres and genetic selection farms.


Assuntos
Cruzamento , Aberrações Cromossômicas/veterinária , Sus scrofa/genética , Animais , Quimerismo/veterinária , Feminino , Cariótipo , Masculino , Aberrações dos Cromossomos Sexuais/veterinária , Espanha , Translocação Genética , Cromossomo Y
15.
Medicine (Baltimore) ; 98(41): e17407, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31593094

RESUMO

BACKGROUND: To evaluate the safety of intracytoplasmic sperm injection (ICSI) for men with Y chromosome azoospermia factor (AZF) microdeletions. METHODS: Twenty-five men with Y chromosome microdeletions and their partners underwent ICSI treatment. These subjects were matched against 50 ICSI cycles in which the patients had normal Y chromosomes. RESULTS: Among the 25 couples, 17 achieved a clinical pregnancy of which 14 continued to a live birth. Sixteen men had deletions of AZFc markers (sY152, sY254, and sY255), 1 had a deletion of sY152, 3 had a deletion of sY254, sY255, 1 had a deletion of sY152, sY239, Sy242, sY254, and sY255, and 3 had deletions of sY152, sY254, sY255, and sY157. AZFb microdeletions (sY127, sY134, and sY143) were found in 1 patient. AZF microdeletions had no adverse effects on the clinical pregnancy, implantation or delivery rates, birth weight, gestational age, or sex ratio when compared with the control group. Overall, the multiple gestation and preterm delivery rates of the AZF microdeletion group were similar to those in the control group. CONCLUSION: Men with AZF microdeletions can achieve the delivery of healthy children using ICSI. In this series, it produced good implantation rate and obstetric and perinatal outcomes.


Assuntos
Azoospermia/terapia , Infertilidade Masculina/terapia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/terapia , Injeções de Esperma Intracitoplásmicas/métodos , Adulto , Azoospermia/genética , Deleção Cromossômica , Cromossomos Humanos Y/genética , Feminino , Humanos , Recém-Nascido , Infertilidade Masculina/genética , Masculino , Gravidez , Resultado da Gravidez , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Resultado do Tratamento
16.
Medicine (Baltimore) ; 98(39): e17342, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574874

RESUMO

RATIONALE: The karyotype 49,XXXXY is a rare form of Klinefelter syndrome usually presenting with ambiguous genitalia, facial dysmorphism, mental retardation, and a combination of cardiac, skeletal, and other malformations. PATIENT CONCERNS: We describe a 19-year-old man, whose chromosomal analysis of peripheral blood revealed a karyotype of 49,XXXXY. His mental development and motor ability were significantly delayed. At the age of 19, he had failed to develop secondary sexual characteristics. His random blood glucose level was 19.61 mmol/L, and he showed dry mouth, polydipsia, and polyuria. He had a characteristic facial appearance with prognathism, widened nasal bridge, and strabismus. His bilateral elbow rotation was limited. He had atrophic testes with micropenis. Ophthalmic examination revealed a polar cataract in both eyes. DIAGNOSIS: He was diagnosed with Klinefelter syndrome associated with cleft palate, hypothyroidism, cataracts, diabetes, and other anomalies. INTERVENTIONS: After the initial diagnosis, the patient received intensive insulin therapy to correct hyperglycemia, and he received calcium and vitamin D supplements. The patient also received testosterone and thyroid hormone replacement therapy for primary hypogonadism. OUTCOMES: The patient was discharged 12 days after receiving treatment; meanwhile, there were no clinical symptoms of dry mouth, polyuria and polyuria, and his blood glucose level was controlled. LESSONS: The combination of cleft palate, hypothyroidism, cataracts, diabetes, and osteoporosis in 49,XXXXY syndrome has not yet been reported. Early treatment and appropriate care can significantly improve the patient's quality of life and prevent serious consequences.


Assuntos
Catarata/congênito , Fissura Palatina/genética , Hipotireoidismo Congênito/genética , Diabetes Mellitus/congênito , Transtornos dos Cromossomos Sexuais/complicações , Anormalidades Múltiplas/genética , Aneuploidia , Cromossomos Humanos X/genética , Humanos , Cariotipagem , Masculino , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/genética , Adulto Jovem
17.
Ann Biol Clin (Paris) ; 77(5): 517-523, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31512578

RESUMO

The aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on the Y chromosome in Tunisian infertile men with severe oligozoospermia or non-obstructive azoospermia. In cases of azoospermia, we aimed also to correlate histological results after negative testicular sperm extraction with the type of Y chromosome microdeletion. 84 infertile patients and 52 controls were screened for karyotypic abnormalities using G-banding and Yq chromosome microdeletions using multiplex PCR. 7 infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromosome microdeletions. The frequency of chromosome abnormalities in azoospermic patients was 11.1% vs 3.3% in the severe oligozoospermic group. Klinefelter syndrome was the most frequent chromosomal abnormalities in 85.7% of cases. Only one patient had a 46,X,del Y/45,X karyotype. The frequency of microdeletions was 11.1% in the azoospermic group and 6.7% in the severe oligozoospermic group. Six out of 84 (7.14%) of the infertile patients had microdeletions in the AZFc region, one azoospermic male had microdeletion in the AZFbc regions and one in the AZFb region, no deletions in the AZFa region. Among the 6 azoospermic patients with microdeletions: 4 had Sertoly cell only syndrome (SCOS) and 2 had maturation arrest (MA). Genetic abnormalities in infertile Tunisian patients are similar to those reported in other countries. The knowledge of the existence of genetic abnormalities and microdeletions is useful to provide a correct diagnosis and it allows the clinician to refer the patient to adequate assisted reproduction technique and examine the value of testicular biopsy pertinence.


Assuntos
Aberrações Cromossômicas/estatística & dados numéricos , Deleção Cromossômica , Cromossomos Humanos Y/genética , Infertilidade Masculina/epidemiologia , Infertilidade Masculina/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia , Adulto , Azoospermia/epidemiologia , Azoospermia/genética , Estudos de Associação Genética , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Oligospermia/epidemiologia , Oligospermia/genética , Prevalência , Aberrações dos Cromossomos Sexuais , Tunísia/epidemiologia
18.
Clin Interv Aging ; 14: 1227-1241, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31413553

RESUMO

Purpose: Abdominal aortic aneurysm (AAA) demonstrates many features of autoimmune diseases. Y chromosome, sex-determining region of the Y chromosome (SRY) gene, androgen receptor (AR) gene, and androgen appear as potential candidates for influence of the male immune function. This study investigated Y chromosome numbers, SRY gene, AR gene, and androgen levels in male AAAs. We also investigated the correlation between Y chromosome loss (LOY) ratio, SRY expression, androgen levels, and age. Patients and methods: We investigated LOY by fluorescence in situ hybridization (FISH) in 37 AAAs and compared with 12 patients with abdominal aortic atherosclerotic occlusive disease (AOD) and 91 healthy controls (HC). We investigated SRY and AR expression at mRNA level by real-time PCR in peripheral T lymphocytes in AAA compared with AOD and HC, and AR protein levels by immunohistochemistry (IHC) in AAA. LOY, SRY expression, androgen levels, and age were examined for correlations using the Spearman's rank correlation coefficient. Results: LOY ratio in peripheral T lymphocytes was significantly higher in the AAA group compared with the HC (9.11% vs 5.56%, P<0.001) and AOD groups (9.11% vs 6.42%, P=0.029). The SRY mRNA expression in peripheral T lymphocytes was 4.7-fold lower expressed in the AAA group than in the HC group (P<0.001). Free plasma testosterone levels were lower in the AAA group compared with the HC group (P=0.036), whereas sex hormone-binding globulin levels were higher (P=0.020). LOY ratio and expression of SRY mRNA level increased with age in the AAA group (R=0.402 and, R=0.366, respectively). A significant correlation between AR mRNA level (R=0.692) and aortic diameter was detected. Simultaneously, in AAA tissue, the rate of LOY increased with age (R=0.547) and also positively associated with LOY in peripheral blood T lymphocytes (R=0.661). Conclusion: This study identified a prominent Y chromosome loss in male AAAs, which is correlated to age, lower level of SRY expression and free testosterone, providing a new clue for the mechanisms of AAA.


Assuntos
Androgênios/sangue , Aneurisma Dissecante/epidemiologia , Aneurisma da Aorta Abdominal/epidemiologia , Cromossomos Humanos Y/fisiologia , Receptores Androgênicos/genética , Proteína da Região Y Determinante do Sexo/genética , Fatores Etários , Idoso , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , RNA Mensageiro , Aberrações dos Cromossomos Sexuais
19.
Medicine (Baltimore) ; 98(28): e16358, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31305430

RESUMO

RATIONALE: Infertile men with Y-chromosome microdeletions have been reported to be able to have their own children via intracytoplasmic sperm injection (ICSI). PATIENT CONCERNS: A 27-year-old man with Y-chromosome azoospermia factor c (AZFc) deletions underwent ICSI treatment. The pregnancy showed a high risk for trisomy 21 syndrome (risk value: 1 in 150). DIAGNOSES: The karyotype of the patient was 46, XY, inv (9) (p11q13). His wife had a normal karyotype. Sequence-tagged site-based polymerase chain reaction (PCR) analysis showed that markers sY254 and sY255 were absent. ICSI was performed. Two embryos (6IV, 8II) were transferred to the uterus of the patient's wife. Second-trimester maternal serum triple-screening showed that the pregnancy was high risk for trisomy 21 syndrome (risk value: 1 in 150). Amniocentesis was performed and revealed that the fetal chromosomal karyotype was 46, XX, inv (9) (p11q13). INTERVENTIONS: The couple chose to continue the pregnancy and a healthy girl was born at 39 weeks of gestation. OUTCOMES: An infertile man with AZFc microdeletions can reproduce via ICSI technology. The karyotype inv (9) (p11q13) can be transmitted to offspring. Whether this karyotype has clinical significance, such as causing infertility or variations in prenatal biochemical markers, is unclear. LESSONS: Y-chromosome microdeletions and/or the karyotype inv (9) (p11q13) may cause clinically significant variation in prenatal biochemical markers.


Assuntos
Deleção Cromossômica , Infertilidade Masculina , Gravidez de Alto Risco , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual , Injeções de Esperma Intracitoplásmicas , Adulto , Cromossomos Humanos Y , Feminino , Humanos , Recém-Nascido , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/reabilitação , Masculino , Gravidez , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/reabilitação
20.
J Obstet Gynaecol Res ; 45(8): 1497-1505, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31241244

RESUMO

AIM: Among women of childbearing age, about 2-5% are affected by amenorrhea that is either primary or secondary. However, there are no data regarding the frequency and type of chromosomal abnormalities associated with amenorrhea in Saudi women. The present study aims to establish the frequency and pattern of chromosomal abnormalities in primary amenorrhea (PA) and secondary amenorrhea (SA) cases in a tertiary care center, Riyadh, Saudi Arabia. METHODS: This cross-sectional study was conducted between 2013 and 2016 on women referred to the Reproductive Endocrine and Infertility Medicine Department at a tertiary care center in Riyadh. Women were divided into two groups: PA and SA. After the initial diagnosis of amenorrhea based on medical history, physical examination, hormonal profile and ultrasonography, chromosome karyotype analysis was conducted on metaphase preparations following routine cytogenetics culture and harvest methods. RESULTS: Chromosomal tests were performed for 53 patients (42 with PA and 11 with SA) out of 79 referred patients with amenorrhea. About 19% of the 42 patients with PA and 1 patient (9.1%) diagnosed as SA showed an abnormal karyotype. The most common abnormal karyotypes observed were 46, XY and 45, X. CONCLUSION: The present study indicates that the chromosomal analysis after the exclusion of nongenetic causes should be essentially considered for the precise diagnosis and the development of more successful management for females with amenorrhea. This study also revealed that the prevalence of chromosomal abnormalities in women with PA and SA is similar to that reported in the literature.


Assuntos
Cariótipo Anormal/estatística & dados numéricos , Amenorreia/epidemiologia , Amenorreia/genética , Aberrações dos Cromossomos Sexuais/estatística & dados numéricos , Adulto , Estudos Transversais , Feminino , Disgenesia Gonadal 46 XY/epidemiologia , Humanos , Cariotipagem , Arábia Saudita/epidemiologia , Síndrome de Turner/epidemiologia , Adulto Jovem
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