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1.
Medicine (Baltimore) ; 98(44): e17838, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689873

RESUMO

RATIONALE: Recurrence of Klinefelter syndrome (KS) in non-twin brothers is very rare. This study examined the inheritance pattern of supernumerary X chromosomes in non-twin brothers. PATIENT CONCERNS: A 16-year-old man presented with small-sized testicles. During his diagnostic work-up, his brother, in his late 20's, also complained of small testes and erectile dysfunction. DIAGNOSIS: Chromosome analysis in peripheral blood revealed non-mosaic 47,XXY karyotype in both brothers. Their mother showed a normal 46,XX karyotype. INTERVENTIONS: To examine the inheritance pattern of supernumerary X chromosomes, quantitative-fluorescence PCR was performed with small tandem repeat markers. It revealed that their supernumerary X chromosomes were inherited from different parents. OUTCOMES: After the diagnosis of KS, 2 brothers started to receive testosterone treatment. CONCLUSION: This case report is the first to report differences in the origins of supernumerary X chromosomes in brothers with KS and furthers the current understanding of the cytogenetic mechanisms in KS.


Assuntos
Cromossomos Humanos X , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Adolescente , Adulto , Disfunção Erétil/etiologia , Humanos , Síndrome de Klinefelter/tratamento farmacológico , Masculino , Pais , Reação em Cadeia da Polimerase/métodos , Irmãos , Sequências de Repetição em Tandem , Testosterona/uso terapêutico
2.
Rev Med Chil ; 147(4): 518-521, 2019 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-31344216

RESUMO

Klinefelter syndrome (47, XXY in most cases) is a frequently underdiagnosed chromosomal anomaly associated with multiple comorbidities in adult life. Patients with Klinefelter syndrome have a higher risk of cancer. Specifically, these patients have a higher risk for mediastinal germ cell tumors. It is estimated that 8% of male patients with mediastinal tumors have Klinefelter. We report a 42-years-old male who suffered recurrent respiratory infections. During the study, a mediastinal mass was found, whose pathological study disclosed a type B thymoma. The patient had a history of infertility, high stature, gynecomastia, obesity with gynecoid distribution of body fat and testicular atrophy. A karyotype was requested (47, XXY), confirming the diagnosis of Klinefelter syndrome.


Assuntos
Síndrome de Klinefelter/patologia , Timoma/patologia , Neoplasias do Timo/patologia , Adulto , Humanos , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Masculino , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/patologia , Radiografia Torácica , Timoma/diagnóstico por imagem , Neoplasias do Timo/diagnóstico , Tomografia Computadorizada por Raios X
3.
Acta Otolaryngol ; 139(6): 479-486, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31035849

RESUMO

BACKGROUND: Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, vision loss, and occasionally vestibular dysfunction. Klinefelter syndrome (KS) is an X chromosome polyploidy characterized by one or more additional X chromosomes in males. To date, there has been no report of USH combined with KS. OBJECTIVES: This study examined the causative genes in three Chinese probands with congenital hearing loss. MATERIAL AND METHODS: Targeted next-generation sequencing (NGS) was performed to identify mutations in three probands with hearing loss. Low-coverage whole-genome sequencing (WGS) analysis of aneuploidy was used to verify the chromosome aneuploidy. RESULTS: Four novel MYO7A mutations were identified in two USH1 probands who were initially diagnosed with nonsyndromic hearing loss until the onset of vision loss. Another case was initially diagnosed with nonsyndromic hearing loss and USH2 and KS were discovered incidentally after the genetic analysis. CONCLUSIONS: Our findings expand the mutation spectrum of MYO7A. This is also the first report of concomitant USH and KS. Genetic testing can help with clinical management, particularly if an unrecognized syndromic disorder is identified before the onset of additional symptoms. A clinical genetic evaluation is recommended as part of the diagnostic work-up in congenital hearing loss.


Assuntos
Surdez/genética , Predisposição Genética para Doença , Testes Genéticos/métodos , Síndrome de Klinefelter/genética , Síndromes de Usher/genética , Criança , China , Implantes Cocleares , Surdez/congênito , Feminino , Auxiliares de Audição , Humanos , Síndrome de Klinefelter/diagnóstico , Masculino , Multimorbidade , Mutação , Prognóstico , Amostragem , Síndromes de Usher/diagnóstico
4.
Rinsho Shinkeigaku ; 59(5): 253-257, 2019 May 28.
Artigo em Japonês | MEDLINE | ID: mdl-31061299

RESUMO

A 69-year-old man was admitted because of subacute development of lower limb weakness from one month ago. He showed central obesity, gynecomastia, dorsal fat pad ("buffalo hump"), and proximal muscle weakness in the lower extremities (manual muscle test 4). Needle EMG, muscle MRI and labolatry screening including CPK were negative for neuromuscular diseases, except for the hypogenitalism accidentally detected in MRI. Although blood corticol was in normal range, the levels of serum ACTH and 24-hour urinary free cortisol excretion were high, and the dexamethasone suppression tests were positive. Brain MRI showed a small pituitary mass with gadolinium enhancement, and ACTH measurement from petrosal sinus sampling after CRH stimulation lead to the diagnosis of definite Cushing disease. Moreover, he also showed low testosterone and elevated LH and FSH. Chromosome banding revealed 47 XXY in 22 in 30 cells, leading to the diagnosis of mosaic Klinefelter syndrome. The supplementation with testosterone was partially effective for his weakness. The surgical resection of pituitary microadenoma resulted in the full recovery. Either Klinefelter syndrome or mild Cushing disease alone was insufficient as a cause of the muscle weakness in this patient. It is plausible that the mild elevation of cortisol accompanied by the lack of tesstelone may underlie the weakness, probably linked to impaired balance between muscle anabolism and catabolism.


Assuntos
Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Doenças Musculares/etiologia , Hipersecreção Hipofisária de ACTH/complicações , Hipersecreção Hipofisária de ACTH/diagnóstico , Doença Aguda , Adenoma/complicações , Adenoma/cirurgia , Hormônio Adrenocorticotrópico/sangue , Idoso , Biomarcadores/sangue , Biomarcadores/urina , Bandeamento Cromossômico , Hormônio Foliculoestimulante/sangue , Humanos , Hidrocortisona/urina , Hormônio Luteinizante/sangue , Imagem por Ressonância Magnética , Masculino , Debilidade Muscular/etiologia , Doenças Musculares/diagnóstico , Doenças Musculares/terapia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/cirurgia , Testosterona/administração & dosagem , Testosterona/deficiência , Resultado do Tratamento
5.
J Pak Med Assoc ; 69(4): 567-571, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31000864

RESUMO

This study was designed to investigate the hormonal, seminal changes and chromosomal aberrations in cases of male infertility. A total of ten infertile families from Khyber Pakhtunkhwa of Pakistan were included in the study. The families were clinically evaluated by standard criteria; diagnosis of azoospermic and oligospermic males was confirmed. Seminal, hormonal, ultra sonographic and histopathological examinations were carried out for all the affected participants of the study. Karyotyping was performed on peripheral blood lymphocytes according to standard methods. Hormones were altered in six families. Ultrasonographic abnormal finding was observed in six families. Karyotyping analysis revealed numerical aberration in family G (0X) and family I (XXY). The remainingfamilies had no structural or numerical aberration. Y chromosome microdeletion analysis revealed AZFc deletion in both the affected participants of the family C. The remaining families were found normal for microdeletion. The occurrence of chromosomal anomalies and Y chromosome microdeletions among infertile males strongly suggests the need to include these two tests in routine investigations of male in fertility cases.


Assuntos
Azoospermia/genética , Hipogonadismo/genética , Infertilidade Masculina/genética , Oligospermia/genética , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adolescente , Adulto , Deleção Cromossômica , Cromossomos Humanos Y/genética , Proteína 1 Suprimida em Azoospermia/genética , Família , Humanos , Infertilidade Masculina/diagnóstico , Síndrome de Klinefelter/diagnóstico , Masculino , Pessoa de Meia-Idade , Linhagem , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Adulto Jovem
6.
Andrologia ; 51(6): e13272, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30907014

RESUMO

In recent years, genetic studies have yielded great progress in elucidating causes of male infertility. This investigation aims to identify frequent genetic abnormalities, that is, sex chromosome aneuploidies and Y-chromosome microdeletions among infertile men in Western Saudi Arabia. From a population of infertile patients, 88 male patients with either azoospermia or severe oligozoospermia (sperm concentration <5 million/ml) were selected. In addition to a thorough clinical workup, karyotypes and Y-chromosomal microdeletions were investigated. Among those 88 infertile patients, we detected six patients with Klinefelter syndrome, two with 47 XYY syndrome and two with Y-chromosome microdeletions AZFb,c. While the prevalence of sex chromosome aneuploidies was in the range of globally investigated populations, the microdeletions appeared to be less frequent in Western Saudi Arabia compared to other regions of the world. All genetically abnormal cases showed sperm concentration <1 million/ml, and hence, this appears to be the threshold for warranting genetic investigations in Western Saudi Arabia. Since Klinefelter and 47 XYY syndromes were only discovered late in life, upon an infertility investigation, sex chromosome aneuploidies due to their many-fold comorbidities require earlier medical attention. A neonatal screening programme is suggested for detection of these aneuploidies in Saudi Arabia for the general health benefit of these patients.


Assuntos
Aneuploidia , Infertilidade Masculina/epidemiologia , Síndrome de Klinefelter/epidemiologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia , Adulto , Deleção Cromossômica , Cromossomos Humanos Y/genética , Testes Genéticos/métodos , Necessidades e Demandas de Serviços de Saúde , Humanos , Incidência , Infertilidade Masculina/diagnóstico , Infertilidade Masculina/genética , Cariotipagem , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Masculino , Programas de Rastreamento/métodos , Programas de Rastreamento/organização & administração , Pessoa de Meia-Idade , Estudos Prospectivos , Arábia Saudita/epidemiologia , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Contagem de Espermatozoides
7.
Vnitr Lek ; 65(1): 51-54, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30823838

RESUMO

Acromegaly is a rare disorder usually caused by a benign tumour of the pituitary gland. Long-term presence of elevated growth hormone (GH) and insulin like growth factor 1 (IGF1) levels accompanying this disease is associated with complications such as cardiomyopathy, diabetes mellitus, sleep apnoea and arthropathy. Incidence of acromegaly is 3-4 patients per million per year. Klinefelter syndrome (KS) is the most common sex chromosome disorder occuring in about 1/500 live male births. Common physical features include particularly small testes, among other symptoms are tall stature, reduced muscle tone, delayed pubertal development, lack of secondary male sex characteristics and gynecomastia. We present a 32-year-old man suffering from both acromegaly and 47, XXY Klinefelter syndrome. The patient with typical acromegalic features. Laboratory tests revealed high level of GH which was not suppressed after glucose administration, high level of IGF1, low testosterone concentration with high concentation of luteinizing hormone and follicle stimulating hormone. A magnetic resonance imaging scan revealed a 25 × 18 × 18 mm macroadenoma involving the pituitary gland. A diagnosis of acromegaly was established. After this examination trans-sphenoidal resection was performed. Histopathologic and immunohistochemical findings revealed growth hormoneproducing pituitary adenoma. The presence of infertility with clinical features such as small testes, lack of secondary male sex characteristics and laboratory findings revealed hypergonadotropic hypogonadism that could not be explained by the diagnosis of acromegaly. A chromosomal karyotyping revealed a 47, XXY, confirming the diagnosis of KS. Testosterone replacement therapy wasn´t begun because of patient disagreement Postoperatively elevated plasma concentration of GH and IGF1 levels persist. Treatment by somatostatin analogues (lanreotid) was initiated at dose 120 mg every 28 days. Control magnetic resonance imaging of the sella demonstrated a residue of pituary adenoma size 14 × 14 × 7 mm. The patient is currently undergoing endoscopic revision of the residue. acromegaly - growth hormone - IGF1 - Klinefelter syndrome - testosterone.


Assuntos
Acromegalia , Adenoma , Síndrome de Klinefelter , Neoplasias Hipofisárias , Acromegalia/complicações , Acromegalia/diagnóstico , Acromegalia/genética , Adenoma/complicações , Adenoma/diagnóstico , Adenoma/genética , Adulto , Hormônio do Crescimento Humano , Humanos , Fator de Crescimento Insulin-Like I , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Masculino , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/genética
8.
Andrologia ; 51(5): e13253, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30746732

RESUMO

BACKGROUND: Klinefelter syndrome(KS), affecting 1 in 500-1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic findings with the few cases reported before. MATERIALS AND METHODS: A 25-year-old male patient referred to our clinic with complaint of infertility. He is the son of a consanguineous couple who are first cousins and there was no family history of reproductive difficulty. In physical examination synophrys, prominent ear and small testicles noted. The patient's spermiogram showed azoospermia and scrotal USG revealed testicular atrophy. RESULTS: Karyotype analysis using G-banding resulted as 47,X,i(X)(q10),Y, and STR analysis showed no deletion in AZF and SRY loci of interest. CONCLUSION: Although several isochromosome Xq variant of KS cases can be found in literature, it is our duty to emphasise the importance of karyotyping for patients with reproductive difficulty who may not have all features of classical Klinefelter syndrome.


Assuntos
Cromossomos Humanos X/genética , Isocromossomos/genética , Síndrome de Klinefelter/genética , Adulto , Humanos , Cariotipagem , Síndrome de Klinefelter/diagnóstico , Masculino
10.
Curr Opin Endocrinol Diabetes Obes ; 26(1): 60-65, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30507702

RESUMO

PURPOSE OF REVIEW: Klinefelter syndrome is the most common sex chromosome abnormality in men. Hypogonadism and testicular degeneration are almost universal. Truncal adiposity, metabolic syndrome and low bone mass occur frequently. This review summarizes the most recent advances in the pathogenesis and management of the endocrine abnormalities in Klinefelter syndrome. It is expected that optimal endocrine management will improve outcomes and quality of life in Klinefelter syndrome. RECENT FINDINGS: In Klinefelter syndrome, testosterone replacement is routinely prescribed despite lack of evidence on the optimal dose and time for initiation of therapy. Cross-sectional studies have linked hypogonadism to the development of metabolic abnormalities and low bone mass. Testosterone therapy, however, is not consistently associated with improved metabolic and bone outcomes. Increased truncal adiposity and high rates of metabolic syndrome are present in prepubertal children. A randomized trial of oxandrolone in prepubertal boys showed improvement in visual-motor function, socialization and cardiometabolic health. Testicular sperm extraction (TESE) has success rates similar to other causes of nonobstructive azoospermia when performed between 16 and 35 years of age. SUMMARY: Endocrine care in Klinefelter syndrome should start in childhood and include evaluation of metabolic risk factors and bone health. Further research to guide evidence-based endocrine care is very much needed.


Assuntos
Sistema Endócrino/fisiologia , Hormônios/sangue , Síndrome de Klinefelter/sangue , Síndrome de Klinefelter/fisiopatologia , Adolescente , Adulto , Criança , Estudos Transversais , Hormônios/análise , Humanos , Hipogonadismo/sangue , Hipogonadismo/diagnóstico , Hipogonadismo/etiologia , Hipogonadismo/terapia , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/terapia , Masculino , Síndrome Metabólica/sangue , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/etiologia , Síndrome Metabólica/terapia , Qualidade de Vida , Fatores de Risco , Adulto Jovem
12.
Intern Med ; 58(2): 259-262, 2019 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-30146555

RESUMO

A 60-year-old male patient with type 1 diabetes mellitus (T1DM) was admitted for glycemic control. The patient exhibited abdominal adiposity, osteoporosis, and high insulin requirement (>100 U), and we suspected hypogonadism. A physical examination revealed small testes and thin pubic hair, laboratory examination found high luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels and low testosterone levels, and a chromosome analysis (47, XXY) indicated hypogonadism due to Klinefelter syndrome (KS). KS is associated with autoimmune diseases and patients positive for diabetes related auto-antibodies. In male patients with T1DM and abdominal adiposity, the concurrence of KS should be taken into consideration.


Assuntos
Diabetes Mellitus Tipo 1/complicações , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Obesidade Abdominal/complicações , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hormônio Foliculoestimulante/sangue , Humanos , Hipoglicemiantes/uso terapêutico , Hipogonadismo/etiologia , Insulina/uso terapêutico , Hormônio Luteinizante/sangue , Masculino , Pessoa de Meia-Idade , Osteoporose/complicações , Testosterona/sangue
13.
Cancer ; 124(19): 3900-3908, 2018 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-30291793

RESUMO

BACKGROUND: Males with Klinefelter syndrome (KS) (47,XXY) may be more likely to develop germ cell tumors (GCTs), particularly mediastinal GCTs. To date, there are no reports characterizing the prevalence of KS among male GCT cases. METHODS: The authors used array genotyping data from a Children's Oncology Group epidemiology study to estimate the prevalence of KS in males with GCTs (433 males aged birth-19 years). Using Fisher's exact tests, the authors examined differences in age at diagnosis, race/ethnicity, tumor location and histology, and several birth characteristics between cases of KS-GCT and GCT cases without chromosomal abnormalities. Using publicly available data, the authors estimated the 1-year risk, risk ratio, and corresponding 95% confidence interval of GCTs among KS cases. RESULTS: Based on analysis of array genotyping data, 3% of male GCT cases (13 cases) had KS. The additional X chromosome was of maternal origin in 7 of the 13 cases. Of these 13 KS cases, 5 of 9 KS-GCT cases with parental questionnaire data (56%) reported a diagnosis of KS. No significant differences were observed with regard to patient or birth characteristics between KS-GCT and non-KS-GCT cases. KS-GCT cases were significantly more likely to be diagnosed with mediastinal tumors than non-KS-GCT cases (P<.01). The authors estimated the risk of developing a GCT among males with KS to be 0.00025, or 1 per 4000 males (risk ratio, 18.8; 95% confidence interval, 11.7-30.0). CONCLUSIONS: Compared with males without chromosomal abnormalities, males with KS are more likely to be diagnosed with a mediastinal GCT. The presence of KS should be considered in males with a diagnosis of mediastinal GCT. In the current study, the authors report that approximately one-third of males with mediastinal germ cell tumors have Klinefelter syndrome, and therefore screening of these individuals for the syndrome may be warranted. Males with Klinefelter syndrome are 19 times as likely as males without Klinefelter syndrome to develop germ cell tumors.


Assuntos
Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/epidemiologia , Neoplasias Embrionárias de Células Germinativas/diagnóstico , Neoplasias Embrionárias de Células Germinativas/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Aberrações Cromossômicas/estatística & dados numéricos , Estudos de Coortes , Técnicas de Genotipagem , Homozigoto , Humanos , Lactente , Recém-Nascido , Padrões de Herança/genética , Síndrome de Klinefelter/genética , Masculino , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/epidemiologia , Neoplasias do Mediastino/genética , Neoplasias Embrionárias de Células Germinativas/genética , Adulto Jovem
14.
Prenat Diagn ; 38(13): 1062-1068, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30255507

RESUMO

OBJECTIVE: To assess the impact of non-invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) in a population with >73,000 annual births. METHOD: Retrospective population-based cohort study from 1986-2016 of all women undergoing prenatal diagnosis before 25 weeks gestation in the Australian state of Victoria. Statistical significance was tested using the chi-square test for trend or proportions. RESULTS: There were 2,043,345 births and 842 SCA diagnoses from 1986-2016. The percentage of prenatal diagnostic tests leading to a SCA diagnosis increased significantly from 0.95% in 2010 to 2.93% in 2016 (p < 0.001) but due to a concurrent decline in testing, the annual prenatal diagnosis rate of SCA remained stable at 4.4/10,000 births. Among confirmed fetal SCAs the most common indication for testing in 1986 was advanced maternal age (63%); in 2016 it was high risk NIPT (49%). CONCLUSION: SCAs now make up an increasing proportion of prenatal diagnostic results but due to the overall decline in diagnostic testing, the prenatal prevalence as a percentage of births remained steady. The ascertainment of fetal SCA has evolved from an incidental finding after testing for increased risk of trisomy 21, to a diagnosis obtained after suspected SCA on NIPT.


Assuntos
Aneuploidia , Síndrome de Klinefelter/epidemiologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia , Síndrome de Turner/epidemiologia , Cariótipo XYY/epidemiologia , Adulto , Amniocentese , Amostra da Vilosidade Coriônica , Cromossomos Humanos X , Feminino , Humanos , Síndrome de Klinefelter/diagnóstico , Mosaicismo/estatística & dados numéricos , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Aberrações dos Cromossomos Sexuais/estatística & dados numéricos , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Trissomia/diagnóstico , Síndrome de Turner/diagnóstico , Ultrassonografia Pré-Natal , Vitória/epidemiologia , Cariótipo XYY/diagnóstico
15.
Nurs Clin North Am ; 53(3): 395-405, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30100005

RESUMO

Hypogonadism is a clinical syndrome that results in hormone deficiency in men and women. Primary hypogonadism is caused by gonadal (testicular or ovarian) failure. Secondary hypogonadism is the result of a dysfunction within the hypothalamus and/or pituitary. Diagnosis of hypogonadism requires a comprehensive health history, evaluation of the signs and symptoms, complete physical examination, as well as laboratory and diagnostic testing for both sexes. Hormone replacement is the hallmark of hypogonadism treatment. Restoring and/or maintaining quality of life is a major consideration in the management of patients with hypogonadism.


Assuntos
Hipogonadismo/diagnóstico , Feminino , Terapia de Reposição Hormonal , Humanos , Hipogonadismo/enfermagem , Hipogonadismo/psicologia , Hipogonadismo/terapia , Síndrome de Kallmann/diagnóstico , Síndrome de Kallmann/enfermagem , Síndrome de Kallmann/psicologia , Síndrome de Kallmann/terapia , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/enfermagem , Síndrome de Klinefelter/psicologia , Síndrome de Klinefelter/terapia , Masculino , Qualidade de Vida , Síndrome de Turner/diagnóstico , Síndrome de Turner/enfermagem , Síndrome de Turner/psicologia , Síndrome de Turner/terapia
16.
Orv Hetil ; 159(27): 1121-1128, 2018 Jul.
Artigo em Húngaro | MEDLINE | ID: mdl-29961370

RESUMO

INTRODUCTION: Early diagnosis of sex chromosome abnormalities is important because of prevention, family planning and optimal therapy. AIM: Investigation of the relationship between phenotype, age at time of diagnosis and therapeutic options in sex chromosome aberrations. METHOD: Processing data of 51 children with sex chromosome abnormalities who were diagnosed between 2009 and 2014 and examined at the 2nd. Department of Pediatrics, Semmelweis University, by the methods of anamnesis, family tree analysis, physical examination, karyotype analysis and fluorescent in situ hybridisation. RESULTS: 41% of the patients were diagnosed with Turner-, 18% with Klinefelter-, 10% with double-Y-, 6% with triple- and poly-X-syndrome, 19% with other gonadal dysgenesis and 6% with other abnormality. The average age at diagnosis: Turner- and Klinefelter-syndrome 10 years, other gonadal dysgenesis 9 years, 46,XX,t(X;10) 17 years, other abnormalities 1-2 years. CONCLUSIONS: Numerical aberrations of the sex chromosomes are more common than structural aberrations. Klinefelter-, triple- and poly-X-syndromes are underdiagnosed in childhood. Early diagnosis of Turner-syndrome and other gonadal dysgenesis is necessary to optimise therapy and prevent associated diseases. This can be achieved by modern prenatal diagnostic methods and targeted activity of family pediatricians. Orv Hetil. 2018; 159(27): 1121-1128.


Assuntos
Síndrome de Klinefelter/diagnóstico , Aberrações dos Cromossomos Sexuais , Síndrome de Turner/diagnóstico , Fatores Etários , Criança , Pré-Escolar , Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Feminino , Humanos , Hungria , Síndrome de Klinefelter/epidemiologia , Masculino , Cromossomos Sexuais/genética , Síndrome de Turner/epidemiologia
17.
Hum Reprod ; 33(7): 1355-1363, 2018 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-29788175

RESUMO

STUDY QUESTION: Which is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A) cycles? SUMMARY ANSWER: The prevalence of a 47,XXY karyotype amongst male blastocysts without autosomal aneuploides is ~1%. WHAT IS KNOWN ALREADY: The prevalence of Klinefelter syndrome is estimated as 0.1-0.2% in male newborns. However, the KS phenotype is extremely variable and there are men with a 47,XXY karyotype and less evident signs, who may go undetected. No risk factor for the 47,XXY karyotype in products of conception has been yet clearly defined, and no data are available regarding the prevalence of this karyotype among human preimplantation embryos. STUDY DESIGN, SIZE, DURATION: This multicentre cohort study involved 7549 blastocysts obtained during 2826 PGT-A cycles performed between April 2013 and September 2017 at six IVF clinics in Italy. PARTICIPANTS/MATERIALS, SETTING, METHODS: During 2826 PGT-A cycles, 7549 blastocysts underwent trophectoderm biopsy and quantitative-PCR-based comprehensive chromosomal testing to predict the karyotype of the corresponding embryos. The results were also presented according to ranges of maternal and paternal age at oocyte retrieval as well as sperm factor and blastocyst quality. Univariate and multivariate logistic regression analyses were conducted to investigate the correlation of possible confounding factors with the prevalence of 47,XXY karyotype. MAIN RESULTS, THE ROLE OF CHANCE: Overall, 62 blastocysts were 47,XXY or had an XXY karyotype associated with autosomal aneuploidies. After exclusion of the latter, the prevalence of a 47,XXY karyotype among male blastocysts without autosomal aneuploidies was 0.9% (n = 17/1794). A significant correlation was only found for maternal age and blastocyst quality (OR: 1.20, 95% CI: 1.01-1.42; P = 0.04 and OR: 1.6, 95% CI: 1.13-2.45; P = 0.01). LIMITATIONS, REASONS FOR CAUTION: These retrospective data have been produced based on a population of infertile couples undergoing IVF and PGT-A, and the women were mainly of advanced maternal age. Moreover, the qPCR technique is validated only to detect full-chromosome uniform aneuploidies in trophectoderm biopsies. WIDER IMPLICATIONS OF THE FINDINGS: The 0.9% prevalence of the 47,XXY karyotype among male blastocysts, when compared with the 0.1-0.2% prevalence reported in the prenatal and postnatal periods, suggests four possible scenarios that require further investigations: (i) the latter prevalence is underestimated; (ii) 47,XXY blastocysts result in a lower implantation rate than euploid embryos (estimated to be ≈50%); (iii) 47,XXY blastocysts result in a higher early miscarriage rate than euploid embryos (estimated to be ≈10%); or (iv) infertile patients of advanced maternal age and referred to IVF/PGT-A produce a higher rate of 47,XXY blastocysts. STUDY FUNDING/COMPETING INTEREST(S): None. TRIAL REGISTRATION NUMBER: N/A.


Assuntos
Fertilização In Vitro , Testes Genéticos , Cariotipagem , Síndrome de Klinefelter/epidemiologia , Diagnóstico Pré-Implantação , Adulto , Feminino , Humanos , Síndrome de Klinefelter/diagnóstico , Gravidez , Prevalência
18.
Ital J Pediatr ; 44(1): 43, 2018 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-29615074

RESUMO

BACKGROUND: The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess. CASE REPORT: We report the 4th case of association of KS and CAH in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume. He was the first reported case of association of KS and CAH who started androgen replacement therapy in the pubertal age and whose pubertal development was described and followed up step by step. CONCLUSION: In a boy with CAH and small testicular volume, it's important to consider that hypogonadism may be masked by the adrenal androgens excess and a karyotype should be performed once testicular adrenal rests have been ruled out.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Androgênios/administração & dosagem , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Testículo/anormalidades , Adolescente , Hiperplasia Suprarrenal Congênita/sangue , Androgênios/sangue , Seguimentos , Terapia de Reposição Hormonal/métodos , Humanos , Síndrome de Klinefelter/sangue , Masculino , Doenças Raras , Medição de Risco
19.
Sex Med Rev ; 6(4): 595-606, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29680294

RESUMO

INTRODUCTION: Klinefelter syndrome (KS) is the result of sex chromosome aneuploidy most often characterized as 47,XXY. The typical features of KS include tall stature, gynecomastia, small firm testicles, hypergonadotropic hypogonadism, and infertility. However, abnormalities in neurodevelopment, cognition, and social and behavioral functioning also can be present. The abnormalities in neurodevelopment are believed to be due in part to androgen deficiency during early development and puberty. AIM: To discuss the role of androgens in normal adolescent development; discuss the cognitive, behavioral, and social functioning of children with KS; evaluate the evidence for early androgen therapy in men with KS; and discuss management strategies in the development of boys with KS. METHODS: A systematic review of early androgen therapy and KS was performed using PubMed-Medline and Scopus databases. Relevant articles commenting on social, behavioral, cognitive, and physical outcomes among infants, children, and adolescents were included for reporting and discussion. MAIN OUTCOME MEASURES: Social and behavior functioning; cognitive outcomes; adverse effects associated with androgen therapy. RESULTS: 3 retrospective articles and 2 randomized controlled trials addressing early androgen therapy in boys with KS were reviewed. These studies showed an improvement in several aspects of social and cognitive functioning based on validated questionnaires. Treatment strategies, potential negative effects, and limitations of the literature on early androgen therapy in boys with KS are discussed. CONCLUSION: Our findings indicate that early androgen supplementation in children with KS combined with specific educational, family, and social support improves behavioral functioning. The optimal timing of hormonal therapy might require prospective studies, but based on our data and review of the literature, the benefit of early hormonal and therapeutic intervention in KS is very encouraging. Flannigan R, Patel P, Paduch DA. Klinefelter Syndrome. The Effects of Early Androgen Therapy on Competence and Behavioral Phenotype. Sex Med Rev 2018;6:595-606.


Assuntos
Androgênios/uso terapêutico , Síndrome de Klinefelter , Ginecomastia , Humanos , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/tratamento farmacológico , Síndrome de Klinefelter/fisiopatologia , Masculino , Fenótipo , Desempenho Psicomotor , Comportamento Social , Resultado do Tratamento
20.
Andrologia ; 50(7): e13024, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29665107

RESUMO

Klinefelter syndrome is a condition in which a male patient has one Y chromosome and one or more extra X chromosomes. It is the most common sex chromosome disorder. Klinefelter syndrome is distinguished by many clinical features, such as infertility, high gonadotropin and low testosterone levels, increased height, and sparse body and facial hair. We report the case of a 32-year-old man who visited our hospital complaining of male infertility. Semen analysis showed azoospermia, and chromosomal analysis revealed a 47,XY,i(X)(q10) karyotype, which is a rare variant of Klinefelter syndrome. No spermatozoon was found on microdissection testicular sperm extraction, and the testis biopsy histology showed only Sertoli cells and hyalinised seminiferous tubules. 47,XY, i(X)(q10) has an additional isochromosome made of the long arm of the X chromosome, which shares some features of classical Klinefelter syndrome in many aspects, but patients are usually shorter than average height and have normal intelligence. In addition, to the best of our knowledge, no successful sperm extractions from 47,XY, i(X)(q10) patients were reported in the literature. The reports of patients who have undergone microdissection testicular sperm extraction are very rare. Further reports and studies of this chromosomal abnormality are needed.


Assuntos
Azoospermia/genética , Aberrações Cromossômicas , Cromossomos Humanos Y/genética , Síndrome de Klinefelter/genética , Adulto , Azoospermia/diagnóstico , Azoospermia/patologia , Biópsia , Humanos , Cariótipo , Cariotipagem , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/patologia , Masculino , Testículo/patologia
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