Triglyceride-glucose index levels in patients with Klinefelter syndrome and its relationship with endothelial dysfunction and insulin resistance: a cross-sectional observational study

ABSTRACT Objectives: This study aimed to investigate the triglyceride-glucose (TyG) index, which is a simple surrogate marker of insulin resistance that is associated with various cardiometabolic diseases, in patients with Klinefelter syndrome (KS). Subjects and methods: A total of 30 patients with KS (mean age: 21.53 ± 1.66 years) and 32 healthy controls (mean age: 22.07 ± 1.01 years) were included in the study.The clinical and laboratory parameters,TyG index, asymmetric dimethylarginine (ADMA) level, homeostatic model assessment of insulin resistance (HOMA-IR) score, and high-sensitivity C-reactive protein level were measured in patients with KS and healthy subjects. Results: Patients with KS had higher HOMA-IR score (p = 0.043), ADMA levels (p < 0.001), and TyG index (p = 0.031) and lower high-density lipoprotein cholesterol levels (p < 0.001) than healthy subjects. TyG index was positively correlated with plasma ADMA (r = 0.48, p < 0.001) and HOMA-IR (r = 0.36, p = 0.011). Multivariate analyses showed that total testosterone level (β = −0.44, p = 0.001) and TyG index (β = 0.29, p = 0.045) were independent determinants of plasma ADMA levels. Conclusion: Patients with KS had higher TyG indices than healthy subjects. Moreover, TyG index was independently associated with endothelial dysfunction in patients. TyG index may be a practical and useful measure to show the increased endothelial dysfunction in patients with KS.

49,XXXXY: investigação da idade no diagnóstico, apresentação clínica e tratamento: uma revisão narrativa da literatura / 49,XXXXY: age investigation in diagnosis, clinical and treatment: a narrative review review of the literature

O cariótipo 49,XXXXY, uma variante rara da Síndrome de Klinefelter, acomete 1:85.000­100.000 nascidos vivos do sexo masculino e surge a partir de uma dupla não disjunção durante as duas rodadas da meiose (I e II) materna. No entanto, as pesquisas envolvendo indivíduos com essa constituição cromossômica são limitadas. Deste modo, este estudo tem como objetivo geral caracterizar a idade no diagnóstico, a apresentação clínica e o tratamento de indivíduos 49,XXXXY. Foi realizada uma revisão da literatura na base de dados PubMed utilizando os descritores 49,XXXXY and diagnosis e 49,XXXXY. Os critérios de inclusão foram: artigos originais e relato de caso, idioma inglês, versão completa disponível online gratuitamente e que contenham as informações que respondam integralmente ao objetivo geral. Os resultados dos 20 estudos incluídos nessa revisão mostraram que a identificação de indivíduos com cariótipo 49,XXXXY ocorre geralmente após o nascimento, sendo que o diagnóstico no pré-natal é extremamente raro. A presença de diversas anomalias congênitas pode contribuir significativamente para o diagnóstico precoce, ao contrário de pacientes com cariótipo 47,XXY, que geralmente são assintomáticos até a puberdade. Nossos achados podem contribuir para despertar a atenção dos profissionais de saúde no reconhecimento desse distúrbio genético, visto que o diagnóstico precoce dessa síndrome permite o tratamento adequado mais rapidamente, a fim de se obter menor impacto no desenvolvimento global desse indivíduo, com consequente melhora na sua qualidade de vida.

Polymerase chain reaction-based assays facilitate the breeding and study of mouse models of Klinefelter syndrome / 亚洲男科学杂志(英文版)

Klinefelter syndrome (KS) is one of the most frequent genetic abnormalities and the leading genetic cause of nonobstructive azoospermia. The breeding and study of KS mouse models are essential to advancing our knowledge of the underlying pathological mechanism. Karyotyping and fluorescence in situ hybridization are reliable methods for identifying chromosomal contents. However, technical issues associated with these methods can decrease the efficiency of breeding KS mouse models and limit studies that require rapid identification of target mice. To overcome these limitations, we developed three polymerase chain reaction-based assays to measure specific genetic information, including presence or absence of the sex determining region of chromosome Y (Sry), copy number of amelogenin, X-linked (Amelx), and inactive X specific transcripts (Xist) levels. Through a combined analysis of the assay results, we can infer the karyotype of target mice. We confirmed the utility of our assays with the successful generation of KS mouse models. Our assays are rapid, inexpensive, high capacity, easy to perform, and only require small sample amounts. Therefore, they facilitate the breeding and study of KS mouse models and help advance our knowledge of the pathological mechanism underlying KS.

Cariótipos possíveis na síndrome de Klinefelter: uma revisão narrativa / Possible karyotypes in the syndrome Klinefelter: A Narrative Review

Os sinais clínicos da síndrome de Klinefelter foram observados pela primeira vez em 1942, mas sua etiologia só foi definida em 1959. Trata-se de uma condição genética na qual pelo menos um cromossomo X extra é adicionado ao cariótipo masculino normal (46,XY) e acomete cerca de 1 em cada 500 homens. É caracterizada por variabilidade fenotípica que leva a atraso ou ausência de diagnóstico, com uma estimativa de 50% a 75% de homens com Síndrome de Klinefelter nunca obterem o diagnóstico correto. Apesar de o cariótipo clássico (47,XXY) ser encontrado em 80%-90% dos pacientes e o mosaicismo (46,XY/47,XXY) nos 10% restantes, outros cariótipos podem ser encontrados menos frequentemente. Nesse sentido, este estudo tem por finalidade descrever os possíveis cariótipos identificados nos pacientes com Síndrome de Klinefelter. Os resultados mostram que a Síndrome de Klinefelter é usualmente diagnosticada na vida adulta e caracterizada por uma heterogeneidade citogenética quanto aos cariótipos possíveis apresentados pelos pacientes afetados. A condição foi diagnosticada precocemente quando associada à anomalia dos cromossomos autossomos, excesso de cromossomos X extra ou quando foi realizado diagnóstico pré-natal por idade materna avançada. É imprescindível que os profissionais de saúde, em especial os médicos, se familiarizem mais com essa condição, pois o diagnóstico correto e precoce permite a intervenção e tratamento adequados visando melhorar a qualidade de vida desses indivíduos.

PGT or ICSI? The impression of NGS-based PGT outcomes in nonmosaic Klinefelter syndrome / 亚洲男科学杂志(英文版)

This retrospective study demonstrates the clinical outcomes of patients with nonmosaic Klinefelter's syndrome (KS) who underwent preimplantation genetic testing (PGT) with frozen-thawed testicular spermatozoa. Microdissection testicular sperm extraction (micro-TESE) was performed for sperm retrieval. Next-generation sequencing (NGS) was conducted for embryo analysis. A total of 18 couples aged ≤35 years were included, and 22 oocyte retrieval cycles were completed. Euploidy was detected in 29 of 45 (64.4%) embryos. Additionally, the numbers of aneuploid and mosaic embryos detected were 8 (17.8%) and 8 (17.8%), respectively, regardless of a lack of sex chromosome abnormalities. Finally, 13 couples with euploid embryos completed 14 frozen embryo transfer (FET) cycles. Ten couples had clinical pregnancies, and 6 of them had already delivered 5 healthy babies and 1 monozygotic twin. There were also 4 ongoing pregnancies and 2 biochemical pregnancies, but no early pregnancy loss was reported. Based on our results, we speculate that for KS patients, when sperm can be obtained by micro-TESE, the cryopreservation strategy makes the ovarian stimulation procedure more favorable for female partners. The paternal genetic risk of sex chromosome abnormalities in their offspring is extremely low in men with KS. In addition to PGT, the intracytoplasmic sperm injection (ICSI) procedure is comparably effective but more economical for young nonmosaic KS couples. ICSI should be offered as an option for such couples, but monitoring by prenatal genetic diagnosis is recommended.

Malformación genital: disparador del diagnóstico de variantes severas de síndrome de Klinefelter / Genital malformation: trigger of the diagnosis of severe variants of Klinefelter syndrome

Resumen: Introducción: El síndrome de Klinefelter y sus variantes, como alteración en el número de cromosomas sexuales, se encuentra entre los trastornos del desarrollo sexual. Sus portadores manifiestan hipogonadismo hipergonadotrófico en la pubertad; las variantes severas presentan además problemas neurocognitivos y del lenguaje desde edades tempranas. Objetivo: Describir dos pacientes portadores de mal formación genital con diagnóstico genético de variantes severas de síndrome de Klinefelter; y revisar aspectos clínicos y terapéuticos. Casos Clínicos: Caso 1: Diagnóstico de genitales atípicos al nacer: Falo pequeño y corvo con meato uretral a nivel escrotal y escroto bífido. Sin otra anomalía somática, excepto sutil clinodactilia del 5 dedo. Cariotipo: 49,XXXXY. Al año de vida se reconstruyeron los genitales. Evolucionó con retraso global del desarrollo, principalmente del lenguaje, manejado con estimulación temprana kinésica y fonoaudiológica desde los 2 meses, logró integrarse en un jardín de infantes. Caso 2: Al mes de vida se constató falo pequeño y corvo severo (más de 70°), testículos en bolsa. Cariotipo: 48,XXYY. Al año de vida se corrigió malformación del pene. Evolucionó con retraso global del desarrollo, fundamentalmente en el lenguaje expresivo, y fue manejado con el equipo de estimulación temprana desde los 4 meses, logrando adaptación en un jardín de infantes. Conclusión: Las malformaciones genitales condujeron al diagnóstico de variantes severas de síndrome de Klin efelter, y fueron corregidas alrededor del año de vida. La identificación temprana de estas variantes permitió la intervención del equipo de neuroestimulación, favoreciendo el desarrollo neurocognitivo y la integración social de estos niños.

Abstract: Introduction: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an early age. Objective: To describe two patients with genital malformation with genetic diagnosis of severe variants of Klinefelter syndrome, and to review clinical and therapeutic aspects. Clinical Cases: Case 1: Diagnosis of atypical genitalia at birth: Small and curved phallus with the urethral meatus at scrotal level, and bifid scrotum. No other somatic abnormality was observed, except for subtle clinodactyly of the fifth finger. Karyotype: 49, XXXXY. At one year of life, genitalia were reconstructed. The patient presented a global developmental delay, mainly in language, which was managed with early stimulation and speech and language therapy since he was two months old. Finally, he was able to attend kindergarten. Case 2: At one month of life, a small and severe curved phallus (more than 70°) was observed, and testicles were in the scrotum. Karyotype: 48, XXYY. At one year of life, the penile malformation was corrected. The patient presented global developmental delay, mainly in expressive language which was managed with early stimulation since the age of four months, achieving kindergarten attendance. Conclusion: Genital malformations led to the diagno sis of severe variants of Klinefelter syndrome, and were corrected around the year of life. The early identification of these variants allowed the intervention of the neurostimulation team, favoring the neurocognitive development and social integration of these children.

Cuidado de enfermería postoperación de Tromboendarterectomia Pulmonar Bilateral. Estudio de caso fundamentado en los principios de Henderson / Nursing care after Bilateral Pulmonary Thromboendarterectomy. Case study based on Henderson's principles / Cuidados de enfermagem após tromboendarterectomia pulmonar bilateral. Estudo de caso baseado nos princípios de Henderson

Resumen Introducción La tromboembolia pulmonar (TEP) es un padecimiento que se presenta con frecuencia de manera silenciosa, el 50 % o más de los casos no se diagnostica. Se define como la oclusión total o parcial de la circulación pulmonar, ocasionada por un coágulo sanguíneo proveniente de la circulación venosa sistémica, incluidas las cavidades derechas y que, de acuerdo a su magnitud, puede o no originar síntomas. Está considerada como una urgencia cardiovascular y constituye una de las principales causas de morbimortalidad en pacientes hospitalizados. Objetivo Desarrollar un Estudio de caso basado en el Proceso de Atención de Enfermería en la persona postoperada de Tromboendarterectomía Pulmonar Bilateral en Unidad de cuidados intensivos postquirúrgica de un Instituto Nacional de Tercer Nivel de la Ciudad de México. Método Estudio de caso basado en las etapas del proceso enfermero, se utilizó una Guía de valoración de las 14 necesidades de Virginia Henderson, jerarquización de Diagnósticos enfermeros, se ofreció una atención integral enfocada en cuidados especializados para cubrir las necesidades más afectadas en la persona. Conclusiones La aplicación del proceso de atención enfermero con base en la valoración de las 14 necesidades de Virginia Henderson, identificó que las necesidades más afectadas fueron; Oxigenación/Circulación y Evitar peligros, con la jerarquización se determinó que es imprescindible el conocimiento de enfermería en intervenciones especificas en el proceso postoperatorio de Tromboendarterectomía como: la detección del riesgo de alteraciones del ritmo cardiaco, valoración e intervenciones en insuficiencia respiratoria aguda, la propensión a eventos trombóticos secundarios a afección genética, para el logro de la recuperación de la salud de manera exitosa.

Abstract Introduction Since a pulmonary embolism (PE) can develop silently, more than 50 % of cases are not diagnosed until clear signs and symptoms are present. It is defined as the partial or total blockage of pulmonary circulation due to a blood clot which originated from the venous circulation elsewhere. Considered a cardiovascular urgency, it is a main cause of morbidity and mortality among hospitalized patients. Objective Based on the Nursing Process, to carry out a study case on a person who underwent surgery for Bilateral Pulmonary Thromboendarterectomy in the ICU of a Third Level of Care National Institute of Mexico City. Method This is a study case which followed the stages of the Nursing Process. An assessment guide of the 14 needs proposed by Virginia Henderson was utilized. Nursing diagnoses were ranked. An integral and specialized care addressing the patient's most important needs was offered. Conclusions The most important needs identified were: promoting oxygenation and circulation, and preventing risks. From the diagnoses analysis, it was determined that nursing knowledge is crucial in post thromboendarterectomy interventions, in terms of heart rate alteration risk detection, acute respiratory insufficiency assessment, and secondary thrombotic events prevention, all these in order to achieve a successful recovery.

Resumo Introdução A trombo embolia pulmonar (TEP) é uma doença que se apresenta com frequência de maneira silenciosa, o 50 % ou mais dos casos não se diagnostica. Define-se como a oclusão total ou parcial da circulação pulmonar, ocasionada por um coágulo sanguíneo proveniente da circulação venosa sistémica, incluídas as cavidades direitas e que, conforme sua magnitude, pode ou não originar sintomas. É considerada como uma urgência cardiovascular e constitui uma das principais causas de morbimortalidade em pacientes hospitalizados. Objetivo Desenvolver um Estudo de caso baseado no Processo de Atenção de Enfermagem na pessoa pós-perada de Tromboendarterectomia Pulmonar Bilateral na Unidade de cuidados intensivos post-cirúrgica de um Instituto Nacional de Terceiro Nível da Cidade do México. Método Estudo de Caso baseado nas etapas do processo enfermeiro, utilizou-se uma Guia de avaliação das 14 necessidades de Virginia Henderson, hierarquização de Diagnósticos enfermeiros, ofereceu-se uma atenção integral focalizada em cuidados especializados para cobrir as necessidades mais afetadas na pessoa. Conclusões A aplicação do processo de atenção enfermeiro com base na avaliação das 14 necessidades de Virginia Henderson, identificou que as necessidades mais afetadas foram; Oxigenação/Circulação e Evitar perigos, com a hierarquização determinou-se que é imprescindível o conhecimento de enfermagem em intervenções especificas no processo pós-operatório de Tromboendarterectomia como: a detecção do risco de alterações do ritmo cardíaco, avaliação e intervenções em insuficiência respiratória aguda, a propensão a eventos trombóticos secundários a afecção genética, para o sucesso da recuperação da saúde de maneira bem-sucedida.

Síndrome de Klinefelter diagnosticado en un adulto a raíz del estudio de infección respiratoria recurrente y masa mediastínica: caso clínico / Thymoma in a patient with klinefelter syndrome: case report

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.

Alcohol and tobacco induced infiltrating ductal carcinoma male: a case report

Male breast cancer is a rare cancer that forms in the breast tissue of men, it accounts for 1% of all the cancers in men. Recent epidemiological studies suggest that the incidence of MBC is increasing by 1.1% per year.  Due to lack of knowledge and awareness, MBC cases are diagnosed lately, mostly during stages III /IV. Early detection and reduction of mortality and morbidity related to male breast cancer is essential. The present article provides a detailed study of a patient with Infiltrating ductal carcinoma, grade III with regional nodal metastasis and the patient is positive for both oestrogen and progesterone receptors. In this case the patient is alcoholic and had habit of chewing tobacco since childhood and one of the patient’s relative had female breast cancer. These are the probable risk factors in this particular case. The better knowledge regarding the male breast carcinoma can be obtained through the thorough study of the available male breast cases.

Karyotype Analysis In Cases Of Primary Male Infertility

Introduction: Infertility is a major health problem in 10-15% Indian couples affecting their psychological andsocial wellbeing. There is increasing recognition to the contribution of genetic abnormalities to the causation ofmale infertility. Genetics play a important role in infertility by controlling the physiological processes includinghormonal factors, spermatogenesis, and sperm quality. The aim of the study was to find out the Chromosomalabnormalities that play a major role in male infertility cases with non-obstructive azoospermia and oligospermia.The timely investigation to detect genetic abnormality gives better understanding about prognosis to the patientsand helps in providing genetic counseling with early intervention, management and also understanding risksinvolved in transmission of abnormality to future generations.Materials and methods: In present study total 30 male cases of primary infertility clinically diagnosed andconformed by semen analysis as unobstructed azoospermia and oligospermia were selected. Their karyotypeswere prepared and studied for chromosomal abnormalitiesResult: The Numerical chromosomal abnormality was found in 2 (6.66%) cases of azoospermic group in the formof Klinefelter syndrome (47,XXY). In cases of oligospermia 1 (3.34%) case had an abnormality in the form ofRobertsonian translocation involving 14:15 chromosome. The total 3 cases (10%) were found to have grosschromosomal abnormality by conventional cytogenetic method.Conclusion: In cases of Klinelfelter syndrome (47,XXY) due to altered karyotype or due to meiotic non-disjunction,the residual gametes may be extracted through Testicular / Epididymal Sperm Aspiration (TESA). It is necessarythat the diagnosis be made as soon as possible, so as to guarantee the cryopreservation of the semen beforecomplete infertility sets in.

Embryonal Carcinoma of the Pineal Gland Developed in an Adolescent Boy with Klinefelter Syndrome / 임상소아혈액종양

Klinefelter syndrome (KS) is characterized by small testes, gynecomastia, tall stature, and hypergonadotropic hypogonadism. This condition is associated with extra X chromosomes. It is well known that these aneuploidies predispose individuals to the development of several cancers. Moreover, there are many case reports that show KS patients to have a higher relative risk for the development of malignancy. However, incracranial germ cell tumor (ICGCT) associated with KS is very uncommon. Herein, we report delayed diagnosis of KS in a 15-year-old boy with ICGCT, embryonal carcinoma of the pineal gland, after multimodality treatment in Korea.

Treatment of Hidradenitis Suppurativa Patient with Klinefelter Syndrome by Adalimumab

Hidradenitis suppurativa (HS) is a chronic, inflammatory and painful skin disease with recurrent nodules and tracts involving the intertriginous regions. It is known that the patient with HS shows an increased risk of metabolic disorders such as diabetes, metabolic syndrome and autoimmune diseases. Klinefelter syndrome (KS) is a sex chromosomal disorder occurring in males due to an abnormality of sexual differentiation, characterized by 47, XXY karyotype. Also, KS is related with somatic comorbidities such as metabolic syndrome, autoimmune and rheumatologic disorders as HS is. We report a HS patient with KS who shows a big improvement while on tumor necrosis factor-alpha inhibitor treatment.

Klinefelter syndrome: a speech-language and neuropsychological assessment / Síndrome de Klinefelter: avaliação fonoaudiológica e neuropsicológica

ABSTRACT The Klinefelter syndrome is a chromosomal aneuploidy caused by additional X chromosomes in men. The diagnosis is made by clinical observation and karyotype examination. Besides other characteristics, the phenotype involves infertility, hypogonadism, gynecomastia, and cognitive alterations, mainly in the language domain. This paper describes the case of a teenager with Klinefelter syndrome and history of difficulties in the learning process, behavioral and communication problems. The ethical guidelines were followed in the present report. The cognitive-communicative, pragmatic and syntactic profile was drawn from the speech and neuropsychological evaluations. The speech-language assessment showed deficits in expression and comprehension. Difficulties were also found in phonological awareness, mathematical operations, reading and writing, access to the lexicon, alterations in pragmatics and occasionally, in syntactics. The neuropsychological evaluation indicated impairments in tasks that require the identification of similarities, establishment of cause-effect relationships and analogies, demonstrating a compromised reasoning for logical operations, with intellectual level incompatible with the chronological age. This interdisciplinary clinical study favors intervention approaches in rehabilitation, to maximize the potential of the individuals affected, contributing to improve their quality of life.

RESUMO A Síndrome de Klinefelter é uma aneuploidia cromossômica causada por cromossomos X adicionais em homens. O diagnóstico é realizado por meio de observação clínica e exame de cariótipo. O fenótipo envolve, entre outras características, a infertilidade, hipogonadismo, ginecomastia, alterações cognitivas, principalmente no domínio da linguagem. Este trabalho descreve o caso de um adolescente com Síndrome de Klinefelter e histórico de dificuldades no processo de aprendizagem, problemas de comportamento e de comunicação. Cumpriram-se os princípios éticos. Seu perfil cognitivo-comunicativo, pragmático e sintático foi traçado a partir das avaliações fonoaudiológica e neuropsicológica. Os resultados encontrados na avaliação fonoaudiológica foram indicativos de déficits de expressão e compreensão. Além de alterações de consciência fonológica, dificuldades em operações matemática, leitura e escrita, dificuldade de acessar o léxico, alteração de pragmática e, algumas vezes, com alteração na sintática. Os resultados da avaliação neuropsicológica indicaram prejuízos em tarefas que exigiram a identificação de similaridades, estabelecimento de relações de causa-efeito e analogias, demonstrando raciocínio comprometido para operações lógicas, com nível intelectual incompatível à idade cronológica. Este estudo clínico interdisciplinar favorece condutas interventivas nos processos de reabilitação com o intuito de maximizar o potencial do indivíduo afetado, contribuindo para melhoria da qualidade de vida.

Application Of Karyotyping And Flourescent In Situ Hybridisation In Detection Of Klinefelter Syndrome

Introduction: Klinefelter Syndrome is one of most common sex chromosomal abnormality in males with incidenceof 1 in 600 live births. Fluorescence in situ hybridization (FISH) is a powerful molecular cytogenetic techniquewhich allows rapid detection of aneuploidies on interphase cells and metaphase spreads along with conventionalGTG banding technique.Aims and objectives: To evaluate application of karyotyping and FISH as important diagnostic tool in diagnosisKlinefelter Syndrome.Materials and Methods: A retrospective study was conducted on 44 patients who were referred for karyotypingand counselling with suspected Klinefelter Syndrome and hypogonadism to Division of Human Genetics,Department of Anatomy, St. John’s Medical College, Bangalore from January 2014 to October 2017. Chromosomalpreparations were done using the peripheral lymphocyte culture method followed by GTG banding technique,automated photography and karyotyping.FISH was performed with dual colour X/Y probes once abnormality was detected using GTG banding technique.Results: Out of 44 patients, 9 had typical karyotype of Klinefelter syndrome (47,XXY) and Four had variants ofKlinefelter syndromeConclusion: We can conclude that cytogenetic analysis forms important investigation in diagnosis , treatmentand fertility status in patients with Klinefelter syndrome.

A Prospective Study on Klinefelter Syndrome: A Basket of Multiple Systemic Disorders in a Tertiary Care Hospital

Background: When one or more extra X chromosome is added to a normal male karyotype (46-XY), then a new aneuploidy appears called Klinefelter Syndrome (KS). Every day approximately more than 50 new such cases are added in the male population of India. Traditionally they are lean, thin, tall, azoospermic, hypogonadic, infertile males with low social and educational profile. As the age advances level of testosterone decreases and many new symptoms of multiple systemic disorders appear in these cases. Methods: A well designed questionnaire of infertile males attending the above- mentioned OPD’s was filled with history, clinical examination and semen analysis (twice as per the WHO criteria).  Results: In our series of 500 azoospermic males, we encountered 56 classical KS cases (11.2 %) of 47-XXY karyotype, who were hypergonadotrophic hypogonadic and diagnosed with multiple diseases when evaluated in detail. Conclusions: Hence, every KS must receive androgen replacement therapy, which should begin at puberty and continue for lifelong that helps in preventing the development of high comorbidity rate and premature deaths because these are very high in such condition as compared to normal male population.

Approach to the patient with Klinefelter syndrome combined with neuropsychological abnormality / 中华内分泌代谢杂志

Klinefelter syndrome(KS) is the most common sex chromosome disorder in males,which is caused by the presence of the extra X chromosome that maybe inherited from mother or father. Approximately 80% karyotype of the cases is 47,XXY. KS is characterized by small firm testes, hypergonadotropic hypogonadism, infertility,gynaecomastia, increased height. However, cognitive disabilities and psychiatric disorders are rarely diagnosed in KS because they lack screening in related aspects. At the present, the pathogenesis of cognitive disabilities and increased risk of psychiatric diseases in KS have not been delineated. In this article,we report two cases of KS,and review their clinical manifestations,diagnosis,and treatments.

Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study / 亚洲男科学杂志(英文版)

Klinefelter syndrome (KS) is the set of symptoms that result from the presence of an extra X chromosome in males. Postnatal population-based KS screening will enable timely diagnosis of this common chromosomal disease, providing the opportunity for early intervention and therapy at the time point when they are most effective and may prevent later symptoms or complications. Therefore, through this study, we introduced a simple high-resolution melting (HRM) assay for KS screening and evaluated its clinical sensitivity and specificity in three medical centers using 1373 clinical blood samples. The HRM assay utilized a single primer pair to simultaneously amplify specific regions in zinc finger protein, X-linked (ZFX) and zinc finger protein, Y-linked (ZFY). In cases of KS, the ratios of ZFX/ZFY are altered compared to those in normal males. As a result, the specific melting profiles differ and can be differentiated during data analysis. This HRM assay displayed high analytical specificity over a wide range of template DNA amounts (5 ng-50 ng) and reproducibility, high resolution for detecting KS mosaicism, and high clinical sensitivity (100%) and specificity (98.1%). Moreover, the HRM assay was rapid (2 h per run), inexpensive (0.2 USD per sample), easy to perform and automatic, and compatible with both whole blood samples and dried blood spots. Therefore, this HRM assay is an ideal postnatal population-based KS screening tool that can be used for different age groups.

Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: A multicenter study / 亚洲男科学杂志(英文版)

Klinefelter syndrome (KS) is the set of symptoms that result from the presence of an extra X chromosome in males. Postnatal population-based KS screening will enable timely diagnosis of this common chromosomal disease, providing the opportunity for early intervention and therapy at the time point when they are most effective and may prevent later symptoms or complications. Therefore, through this study, we introduced a simple high-resolution melting (HRM) assay for KS screening and evaluated its clinical sensitivity and specificity in three medical centers using 1373 clinical blood samples. The HRM assay utilized a single primer pair to simultaneously amplify specific regions in zinc finger protein, X-linked (ZFX) and zinc finger protein, Y-linked (ZFY). In cases of KS, the ratios of ZFX/ZFY are altered compared to those in normal males. As a result, the specific melting profiles differ and can be differentiated during data analysis. This HRM assay displayed high analytical specificity over a wide range of template DNA amounts (5 ng-50 ng) and reproducibility, high resolution for detecting KS mosaicism, and high clinical sensitivity (100%) and specificity (98.1%). Moreover, the HRM assay was rapid (2 h per run), inexpensive (0.2 USD per sample), easy to perform and automatic, and compatible with both whole blood samples and dried blood spots. Therefore, this HRM assay is an ideal postnatal population-based KS screening tool that can be used for different age groups.

Case report: sex reassignment surgery for Klinefelter syndrome / 中华整形外科杂志

Klinefelter syndrome is a congenital disease of chromosomal aberrations with a prevalence of 0.8%-2.0% in men, which mainly represented as absence of sexual characteristics such as postpubescent undeveloped or less developed testicular, feminine breast development. This article reports two Klinefelter syndrome patients with chromosome karyotype of 47, XXY from 2006 to 2016. Each has successively received series of sex reassignment surgery to improve their genital and secondary sexual characteristics based on their own preferences, satisfactory outcome is therefore achieved.

A Case of Klinefelter Syndrome with Refractory Seizure in Infant / 대한소아신경학회지

Klinefelter syndrome a genetic disorder with various clinical manifestations. Neurological symptoms, such as seizures, are rarely reported with Klinefelter syndrome, and it response well to anti-epileptic drugs. A 5-month-old boy visited the Inha university hospital due to jerking movements and hiccups. The patient had been diagnosed with Klinefelter syndrome at birth and had a medical history of admission to the neonatal intensive care unit due to opisthotonus and ocular deviation at 26 days of age. The patient's serum testosterone level was decreased and his anti-Müllerian hormone level was increased. The brain image examination was normal and the electoencephalography and other blood test results showed no specific findings. However, after admission, the patient recurred generalized tonic-clonic-seizures recurred intermittently even after the administration of antiepileptic drugs. This paper reports a case of non-febrile seizures in a child with Klinefelter syndrome who presented with a refractory course.