Klinefelter syndrome is the most common type of genetic cause of hypogonadism. This syndrome is characterized by the presence of 1 or more extra X chromosomes. Phenotype manifestations of this syndrome are small testes, fibrosis of the seminiferous tubules, inability to produce sperm, gynecomastia, tall stature, decrease of serum testosterone and increases of luteinizing hormone and follicle stimulating hormone. Most patients with Klinefelter syndrome are tall, with slender body compositions, and reports of obesity are rare. We report the case of a 35-yr-old man with hypogonadism and morbid obesity and diabetes mellitus. He had gynecomastia, small testes and penis, very sparse body hair and his body mass index was 44.85. He did not report experiencing broken voice and was able to have erections. We conducted a chromosome study. His genotype was 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2). In this case, the patient was diagnosed as Klinefelter syndrome. He showed rare phenotypes like morbid obesity and average height and the phenotype may be caused by the karyotype and the excess number of X chromosome. Further studies of the relationship between chromosomes and phenotype are warranted.
Adult ; Diabetes Complications/genetics ; Humans ; Karyotyping ; Klinefelter Syndrome/*complications/genetics ; Male ; Obesity, Morbid/*complications/genetics ; Phenotype

Klinefelter syndrome (KS) is often associated with various neoplasms, especially germ cell tumors. Mediastinum is the most favored site of extragonadal germ cell tumors with KS, which is somewhat different from those without KS. The retroperitoneal germ cell tumor in KS is very rare. A five-month-old boy with an abdominal mass was found to have a retroperitoneal tumor. After surgical removal, he was diagnosed to have mature cystic teratoma. Cytogenetic study of his peripheral lymphocytes revealed that his karyotype was consistent with KS. This case suggests that patients with KS might be at risk of having germ cell tumors in sites other than mediastinum. It also suggests that all cases with these tumors should be screened for the presence of karyotypic abnormalities, and it might help to assess the exact correlation between germ cell tumors and KS, and to treat them accordingly.
Case Report ; Human ; Infant ; Karyotyping ; Klinefelter's Syndrome/genetics ; Klinefelter's Syndrome/complications* ; Male ; Retroperitoneal Neoplasms/pathology ; Retroperitoneal Neoplasms/complications* ; Teratoma/pathology ; Teratoma/etiology*

Klinefelter's syndrome is one of the most common forms of primary hypogonadism and infertility in males. It is characterized by small and firm testes, gynecomastia, azoospermia, and an elevated gonadotropin level. The frequencies of diabetes mellitus, breast cancer, and germ cell neoplasia increases in Klinefelter's syndrome. We report upon a 35 year-old male patient with Graves' disease in association with Klinefelter's syndrome; as confirmed by chromosome analysis. The patient is being treated with antithyroid medication for Graves' disease and by testosterone replacement for Klinefelter's syndrome.
Adult ; Graves' Disease/*etiology/radionuclide imaging ; Human ; Hypogonadism/*etiology/genetics/pathology ; Klinefelter Syndrome/*complications/genetics/pathology ; Male

Patients with Klinefelter's syndrome are generally characterized by a 47, XXY karyotype, seminiferous tubule dysgenesis, azoospermia and infertility. However, focal spermatogenesis and severe oligozoospermia have been found in a few cases of 47, XXY, too. With the recent development in assisted reproductive technologies, the recovered spermatozoa by testicular biopsy from Klinefelter patients have been used for intracytoplasmic sperm injection (ICSI) and over 30 healthy neonates have been born. The conception of one 47, XXY fetus was found and then underwent abortion. This review focuses on the ICSI treatment of infertility in Klinefelter patients and the risk of chromosome anomaly in the offspring of these patients.
Chromosome Disorders ; etiology ; Female ; Humans ; Infertility, Male ; etiology ; therapy ; Karyotyping ; Klinefelter Syndrome ; complications ; genetics ; Male ; Pregnancy ; Sperm Injections, Intracytoplasmic

Klinefelter's syndrome (KS) is a most frequent sex chromosomal disorder in males, which is characterized by hypogonadism and infertility. The development of assisted reproductive technology has made it possible for KS males to father children. Microdissection testicular sperm extraction (mTESE) is widely considered to be the best method for sperm retrieval in KS patients. This article presents an overview on mTESE for men with non-mosaic KS in the aspects of its predictors, sperm retrieval rate, operation procedure, preoperative hormonal therapy, and postoperative complications and testosterone reduction.
Adult ; Humans ; Klinefelter Syndrome ; genetics ; Male ; Microdissection ; adverse effects ; methods ; Postoperative Complications ; etiology ; Sperm Retrieval ; Spermatozoa ; Testis ; Testosterone

No abstract available.
Bone Marrow Cells/pathology ; Chromosomes, Human, X/*genetics ; Hematologic Neoplasms/*etiology/genetics ; Humans ; Immunophenotyping ; Karyotyping ; Klinefelter Syndrome/*complications/*genetics ; Male ; Middle Aged ; Mosaicism ; Tomography, X-Ray Computed

OBJECTIVETo analyze clinical characteristics of a combination of dystrophinopathies and Klinefelter's syndrome (karyotype 47, XXY) in one patient.

METHODThe patient was diagnosed as Duchenne muscular dystrophy (DMD) and Klinefelter's syndrome in Beijing Children's Hospital in March, 2013. The clinical manifestations, physical examinations and laboratory test results were analyzed respectively. The clinical characteristics of four cases reported previously were analyzed as well.

RESULTThe 8.5 years old boy presented with symptoms of walking disorder and developmental delay. The patient had facial dysmorphism, waddling gait, Gower's manoeuvre and enlarged calves.Serum creatine kinase level was 21 040 U/L, and he had mild intellectual impairment. Deletions of exons 49-54 of the dystrophin gene were found.Gene dosage analysis revealed a heterozygous deletion in his mother. Five cases have been reported till now, their age ranged from 3.5 to 18 years; 3 of them were DMD, while the other 2 cases were Becker muscular dystrophy (BMD). One of them, detected in pedigree study, whose weakness was minimal in contrast to the proband. The others came to the hospital because of walking disorder or developmental delay. All the patients had enlarged calves, some of them also had Gower's manoeuvre and waddling gait. The patients' height was between 3 rd and 50 th percentile, while 2 of them had facial dysmorphism.Some degree of mental impairment is usual. Their serum creatine kinase were 2 469-24 750 U/L.One of them was detected in pedigree study. Three of them were diagnosed by muscle biopsy, while in the other one mutation analysis was used.

CONCLUSIONThe combination of dystrophinopathies and Klinefelter's syndrome is quite rare, and has clinical features of these two diseases. Mutation analysis (or muscle biopsy) and karyotype analysis can finally diagnose the syndrome.

Child ; Creatine Kinase ; blood ; DNA Mutational Analysis ; Dystrophin ; genetics ; metabolism ; Exons ; genetics ; Gene Deletion ; Heterozygote ; Humans ; Intellectual Disability ; Klinefelter Syndrome ; complications ; diagnosis ; genetics ; Male ; Muscle Weakness ; etiology ; Muscular Dystrophy, Duchenne ; complications ; diagnosis ; genetics ; Mutation ; Pedigree

AIMTo evaluate the occurrence of classical azoospermia factor (AZF) deletions of the Y chromosome as a routine examination in azoospermic subjects with Klinefelter syndrome (KS).

METHODSBlood samples were collected from 95 azoospermic subjects with KS (91 subjects had a 47,XXY karyotype and four subjects had a mosaic 47,XXY/46,XY karyotype) and a control group of 93 fertile men. The values of testosterone, follicle stimulating hormone (FSH) and luteinizing hormone (LH) were measured. To determine the presence of Y chromosome microdeletions, polymerase chain reaction (PCR) of five sequence-tagged site primers (sY84, sY129, sY134, sY254, sY255) spanning the AZF region, was performed on isolated genomic DNA.

RESULTSY chromosome microdeletions were not found in any of the 95 azoospermic subjects with KS. In addition, using similar conditions of PCR, no microdeletions were observed in the 93 fertile men evaluated. The level of FSH in KS subjects was higher than that in fertile men (38.2 +/- 10.3 mIU/mL vs. 5.4 +/- 2.9 mIU/mL, P < 0.001) and the testosterone level was lower than that in the control group (1.7 +/- 0.3 ng/mL vs. 4.3 +/- 1.3 ng/mL, P < 0.001).

CONCLUSIONOur data and review of the published literature suggest that classical AZF deletions might not play a role in predisposing genetic background for the phenotype of azoospermic KS subjects with a 47,XXY karyotype. In addition, routine screening for the classical AZF deletions might not be required for these subjects. Further studies including partial AZFc deletions (e.g. gr/gr or b2/b3) are necessary to establish other mechanism underlying severe spermatogenesis impairment in KS.

Adult ; Azoospermia ; blood ; etiology ; genetics ; Case-Control Studies ; Chromosomes, Human, Y ; genetics ; Gene Deletion ; Genetic Loci ; Genetic Testing ; methods ; Humans ; Karyotyping ; Klinefelter Syndrome ; blood ; complications ; genetics ; Male ; Seminal Plasma Proteins ; genetics ; metabolism ; Testis ; metabolism ; Testosterone ; blood

Biomarkers ; blood ; Child ; Chorionic Gonadotropin ; blood ; Follicle Stimulating Hormone ; blood ; Growth Disorders ; etiology ; Humans ; Klinefelter Syndrome ; complications ; diagnosis ; genetics ; Magnetic Resonance Imaging ; Male ; Mediastinal Neoplasms ; complications ; diagnosis ; surgery ; Puberty, Precocious ; diagnosis ; etiology ; Teratoma ; complications ; diagnosis ; surgery ; Testis ; pathology

AIMTo study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS).

METHODSBlood and semen samples were collected from azoospermic patients with KFS (n = 14) and a control group of men of proven fertility (n = 13). Semen analysis was done according to World Health Organization (WHO) guidelines. Blood samples were processed for karyotyping, fluorescent in situ hybridization (FISH) and measurement of plasma follicle stimulating hormone (FSH) by radioimmunoassay. To determine Y chromosome microdeletions, polymerase chain reaction (PCR) of 16 sequence tagged sites (STS) and three genes (DFFRY, XKRY and RBM1Y) was performed on isolated genomic DNA. Testicular fine needle aspiration cytology (FNAC) was done in selected cases.

RESULTSY chromosome microdeletions spanning the azoospermia factor (AZF)a and AZFb loci were found in four of the 14 azoospermic patients with KFS. Karyotype and FISH analysis revealed that, of the four cases showing Y chromosome microdeletion, three cases had a 47,XXY/46,XY chromosomal pattern and one case had a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern. The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology. However, no Y chromosome microdeletions were observed in any of the 13 fertile men. All patients with KFS had elevated plasma FSH levels.

CONCLUSIONPatients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up, particularly in those considering assisted reproductive techniques.

Adolescent ; Adult ; Chromosome Deletion ; Chromosomes, Human, Y ; Electrophoresis, Gel, Two-Dimensional ; Genetic Loci ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Klinefelter Syndrome ; complications ; genetics ; Male ; Mosaicism ; Oligospermia ; etiology ; genetics ; Seminal Plasma Proteins ; genetics ; Sequence Tagged Sites