No abstract available.
Hypogonadism*

Klinefelter syndrome is the most common form of male hypogonadism. It is characterized by small, firm testis, gynecomastia, a variable degree of eunuchoidism, azoospermia, elevated gonadotropin level. Increased frequency of diabetes mellitus, breast cancer, empysema, chronic bronchitis, varicose vein, germ cell neoplasia occurs in Klinefelter syndrome. We report a 19 year-old male patient with diabetes mellitus in association with Klinefelter syndrome, which was confirmed by chromosome analysis. The patient is being treated with insulin for diabetes mellius and with testostrone replacement for Klinefelter syndrome.
Azoospermia ; Breast Neoplasms ; Bronchitis, Chronic ; Diabetes Mellitus ; Eunuchism ; Germ Cells ; Gonadotropins ; Gynecomastia ; Humans ; Hypogonadism ; Insulin ; Klinefelter Syndrome ; Male ; Testis ; Varicose Veins

Kallman syndrome is characterised by hypogonadotrophic hypogonadism and anosmia. T1 weighted MR coronal images show the bilateral absence or hypoplasia of olfactory bulbs, tracts, and sulci. We report the MR findings of Kallmann syndrome and revew the literature.
Hypogonadism ; Kallmann Syndrome* ; Olfaction Disorders ; Olfactory Bulb

Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal external appearances to typical phenotype. Only 25% KS Patients are ever diagnosed because KS remains unrecognized. Also, boys with KS have an onset of pubertal development within the normal range, not delayed onset of puberty. Adolescents with KS are generally diagnosed as having the lack of pubertal progress. Early detection of KS can be difficult without awareness. We report an unusual case of early onset of puberty in obese boy with KS who presented with a unilateral non-hormone secreting testicular teratoma.
Adolescent ; Adult ; Child ; Humans ; Hypogonadism ; Klinefelter Syndrome* ; Male* ; Phenotype ; Puberty* ; Puberty, Delayed ; Reference Values ; Teratoma

Klinefelter's syndrome which is characterized by hypogonadism with karyotype abnormality (47 XXY or 46 XY/47 XXY) in males has been reported to be associated with autoimmune diseases including rheumatoid arthritis and systemic lupus erythematosus. However, Klinefelter's syndrome accompanying with polymyositis has rarely been reported. We report a case of KFS with polymyosits in a 38-year old man for the first time in Korea.
Arthritis, Rheumatoid ; Autoimmune Diseases ; Humans ; Hypogonadism ; Karyotype ; Klinefelter Syndrome ; Korea ; Lupus Erythematosus, Systemic ; Male ; Polymyositis

Klinefelter's syndrome is a disorder of sexual differentiation in males, characterized by the presence of two or more X-chromosomes, hypogonadism, and lack of secondary sexual characteristics. The association between Klinefelter's syndrome and systemic lupus erythematous has been described, while cases of rheumatoid arthritis associated with Klinefelter's syndrome are rare. We report the first Korean case: a 29-year-old man with Klinefelter's syndrome who developed rheumatoid arthritis. The sex hormone imbalance might have influenced the onset and course of his disease.
Adult ; Arthritis, Rheumatoid ; Gonadal Steroid Hormones ; Humans ; Hypogonadism ; Klinefelter Syndrome ; Male ; Sex Differentiation

An increased frequency of diabetes or impaired glucose tolerance in Klinefelter's syndrome has been previously reported. Insulin resistance is considered to be the cause of this phenomenon in Klinefelter's syndrome, which is associated with low serum SHBG and sex hormone deficiency. Sex hormone deficiencies also result in dyslipidemia and metabolic syndrome. The interrelationship between diabetes, metabolic syndrome, and androgen deficiency is complex. Here we report a case of an 18-year-old man first diagnosed with diabetes mellitus 3 years ago. Upon physical examination the patient showed characteristic phenotypes compatible with primary hypogonadism. Subsequently, tests aimed at determining the cause of hypogonadism, including a chromosomal analysis, suggested Klinefelter's syndrome. The patient's HOMA-IR score was compatible with insulin resistance. Therefore, when diabetes mellitus develops at a young age with characteristic phenotypes, a careful history and physical examination may be needed to determine whether the patient might have primary hypogonadism caused by Klinefelter's syndrome.
Adolescent ; Diabetes Mellitus ; Dyslipidemias ; Glucose ; Humans ; Hypogonadism ; Insulin Resistance ; Klinefelter Syndrome ; Phenotype ; Physical Examination

A clinical investigation and hormonal study was on 36 patients of male hypogonadism who visited the Department of Urology, Dong San hospital, Keimyung university, School of Medicine from March, 1986 to August, 1990, retrospectively. The results were as follows; 1. The cause of primary hypogonadism was Klinefelter's syndrome in all 27 cases. In patients with secondary hypogonadism, there were 7 cases of Kallmann's syndrome, a case of delayed puberty and a case of pituitary tumor. 2. The major physical feature was delay in sexual maturation. In addition, anosmia was found in 4. cases, gynecomastia in 3 cases, family history in 2 cases, cryptorchidism in 2 cases, color blindness in 1 case, obesity in 1 case and associated renal agenesis in 1 case. 3. In hormonal study of primary hypogonadism patients, serum LH was 30.8 mIU/ml, serum FSH 40.3 mIU/ml and serum testosterone 3.9 ng/ml. The results of hormonal study in secondary hypogonadism were serum LH 1.4 mIU/ml, serum FSH 1.9 mIU/ml, serum testosterone 0.3ng/ ml and serum prolactin 4.2 mIU/ml. 4. LHRH stimulation test was performed in secondary hypogonadism to differentiate hypothalamic and pituitary lesion. In 4 cases of Kallmann's syndrome and a case of delayed puberty, 597.6+/-191.4% increase in circulating LH and 365.0+/-218.8% increase in circulating FSH were seen. In 3 cases of Kallmann's syndrome, 200% increase in circulating LH and 153% in crease in circulating FSH were found. A case of pituitary tumor shows 163% increase in circulating LH and 325% in circulating FSH. 5. The treatments of patients with secondary hypogonadism were composed of HCG and HMG administration. Dosage of HCG was 3000 IU, two times a week and HMG administration was combined to restore fertility. 6. To differentiate the hypothalamic from pituitary lesion, a single LHRH test was not always possible, because the limited or absent response to LHRH might indicate either pituitary lesion or pituitary hyporeponsiveness due to chronic deprivation of endogenous LHRH. In this respect, a prolonged LHRH stimulation test and triple stimulation test may help to differentiate hypothalamic from pituitary lesions.
Color Vision Defects ; Cryptorchidism ; Fertility ; Gonadotropin-Releasing Hormone ; Gynecomastia ; Humans ; Hypogonadism* ; Kallmann Syndrome* ; Klinefelter Syndrome ; Male* ; Obesity ; Olfaction Disorders ; Pituitary Neoplasms ; Prolactin ; Puberty, Delayed ; Retrospective Studies ; Sexual Maturation ; Testosterone ; Urology

Klinefelter syndrome is a congenital disease that is associated with the existence of an extra X chromosome, and is one of the most common causes of male primary hypogonadism. In addition to hypogonadism-associated manifestations such as testicular atrophy and infertility, it is also well known that this syndrome may be associated with other systemic comorbidities. In this report, we describe a typical case of Klinefelter syndrome that was differentially diagnosed as a cause of gigantism. A 20-year-old male was admitted to evaluate the cause of tall stature. His height was 193.4 cm, and all screening tests for gigantism were negative. Physical examination revealed no clear evidence of secondary sexual characteristics, and the results of a hormonal assay were highly suspicious for primary hypogonadism. Based on these findings, we performed a chromosomal analysis and confirmed Klinefelter syndrome with a 47, XXY karyotype.
Atrophy ; Chromosome Disorders ; Comorbidity ; Gigantism ; Humans ; Hypogonadism ; Infertility ; Karyotype ; Klinefelter Syndrome ; Male ; Mass Screening ; Physical Examination ; X Chromosome ; Young Adult

Klinefelter's syndrome (KFS) is a gonosomal aberration disease that occurs in males, and is characterized by 47, XXY karyotype, hypogonadism and a lack of secondary sexual characteristics. A potential link between this hormonally deficient syndrome and autoimmune disease, particularly systemic lupus erythematosus (SLE), has been reported. On the other hand, KFS is rarely reported to be accompanied by rheumatoid arthritis (RA), and there are no Korean cases reported. We report the first Korean case of a KFS patient with sero-positive RA and discuss the role of the pathogenesis of RA with KFS.
Aluminum Hydroxide ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Carbonates ; Hand ; Humans ; Hypogonadism ; Karyotype ; Klinefelter Syndrome ; Lupus Erythematosus, Systemic ; Male ; X Chromosome