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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Total body potassium has been measured in chromatin positive males (Klinefelter's syndrome) and males with a 47,XYY karyotype. In patients with an extra X chromosome the level of potassium was very significantly less than in normal males. Its concentration referred to lean body mass, estimated from the patient's height and weight, was also greatly reduced and not significantly different from values found in normal women. In 47,XYY males individual values were low but there was no reduction in the mean value for the group if allowance was made for the obesity of some XYY subjects. The significance of these findings, however, is difficult to assess as their height frequently exceeded that of the controls on which the predicted potassium values were based. From these findings it would seem that when characteristics which are normally associated with the female sex occur in males, as in Klinefelter's syndrome, there is also a reduction in body potassium either in the total content or the lean tissue concentration, or in both. By comparison, 47,XYY males appear to be more normal in these respects but further normal data is required in order to interpret the results. The possibility that abnormal androgen production in the chromatin positive men may be influencing the potassium levels is the subject of further investigation.
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PMID:Total body potassium content in males with X and Y chromosome abnormalities. 124 58

We report a case of Klinefelter's syndrome who developed a decrease of serum gonadotropin levels, particularly LH, after CyA treatment for complicated focal glomerulosclerosis (FGS). A 38-year-old man suffering from general malaise and pretibial edema was diagnosed FGS by renal biopsy in October 1988, and was referred to our hospital for further evaluation and treatment for FGS in December 1988. He was not married, and closer anamnesis revealed that he had had impaired seminal ejaculation from the age of 30. The physical examination showed 37% obesity, scanty body hair, pretibial edema and small bilateral testes (3.0 x 1.5cm). Laboratory findings included marked proteinuria (5.3g/day) and mild renal dysfunction (serum creatinine 1.3mg/dl, glomerular filtration rate 57.2ml/min). Endocrinologically, high basal levels of LH and FSH (133.6mIU/ml and 93.7mIU/ml, respectively) and the hyperresponses of LH and FSH to LH-RH stimulation were found, but the other pituitary hormone levels, thyroid and adrenal status, were in the normal range. In testicular biopsy, nodularly proliferated Leydig cells and no seminal tubules could be seen. The chromosome analysis showed 47,XXY karyotype, which confirmed the diagnosis of Klinefelter's syndrome in this patient. From 9 January 1989, CyA (6mg/Kg.day) was orally administered for 4 weeks in order to treat for FGS. After CyA administration, basal levels of LH and FSH remarkably decreased, particularly LH, and their decrease lasted for at least 6 weeks after cessation of CyA (final levels; LH 28.2mIU/ml, FSH 69.8mIU/ml). On the other hand, serum testosterone level was low normal or slightly under normal, and no apparent changes could be seen during CyA treatment.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Cyclosporine A (CyA)-induced decrease of serum gonadotropin levels in a case of Klinefelter's syndrome. 190 51

We have carried out a prospective survey of 25 cases of male hypogonadism attending one hospital, and a retrospective study of 73 men attending other endocrine clinics in Manchester. In total, 47 had pituitary disorders, 15 isolated gonadotrophin deficiency (including 4 with Kallmann's syndrome), 10 testicular atrophy of unknown cause, 12 testicular damage, 10 with Klinefelter's syndrome, and 4 had miscellaneous disorders. Our survey emphasises the importance of adequate history and examination. Most patients presented with reduced libido, with marital problems in 62% of married men. Less common problems were facial flushing, osteoporosis and gross obesity. Several patients with pituitary disorders were asymptomatic, even in the presence of visual field defects. Klinefelter's syndrome, and testicular atrophy, may present with infertility or gynaecomastia rather than symptoms of androgen deficiency. On examination, the presence of gynaecomastia or obesity were of no help in differential diagnosis, whereas visual field defects clearly indicated a pituitary cause. Measurement of height/span was of little help. The precise diagnosis was usually established with basal plasma LH, FSH, testosterone and prolactin, with karyotype and pituitary radiology, and without more elaborate dynamic hormone tests. Testosterone esters given by intramuscular injection as "Sustanon 250" was the most commonly used replacement therapy. Improved libido usually resulted. Side-effect occurred in 10%, usually as muscle cramps, pain at the injection sites, acne, or excessive sex drive. One tragic case illustrates the potential dangers of androgen replacement therapy in an unrecognised psychopath, and where doubt exists a psychiatric opinion should be sought before starting therapy.
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PMID:Clinical aspects of androgen deficiency in men. 689 Jul 81

Investigations were carried out on boys aged between 8 and 20 years by positive chromatin test. Klinefelter's syndrome was confirmed by karyotype determination in 13 cases. In comparison with the average Polish population the patients' parents were older. The patients were usually the last children to be born in their families. Typical hypogonadism, cryptorchism, especially unilateral, and delay in the development of secondary sex characteristics were observed. Besides typical eunuchoid habitus, endomorphic type of body build, tendency towards obesity or sometimes even delay in growth and a deficiency in body weight were noticed. True gynaecomastia was only present in 1/4 of these patients. Very frequent features of Klinefelter's syndrome are--in the authors' opinion--mental subnormality, inadequate social adaptation and neurotic symptoms. Before adolescence the characteristic phenotype of Klinefelter's syndrome is absent. These results indicate that sex chromatin examination is a general screening test to determine Klinefelter's syndrome in boys.
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PMID:[Clinical cytogenetic and psychoneurological aspects of Klinefelter's syndrome in boys (author's transl)]. 718 12

We report a case of 47 years old patient who was admitted to hospital because of bilateral leg ulcers for 6 years. Chromosome analysis revealed XXY karyotype, confirming the clinical diagnosis of Klinefelter's syndrome. Testosterone level was low and Plasminogen Activator Inhibitor (PAI-1) was elevated. The patient was given androgen therapy which resulted in a normalization of the PAI-1 activity. The frequency of leg ulcers in patients with Klinefelter syndrome is between 6 and 12% according to studies. Different causes would explain the tendency towards leg ulcers in Klinefelter's syndrome: conjunctive tissues abnormalities were revealed in some studies. A higher frequency of venous insufficiency is reported in patients with Klinefelter's syndrome, either due to the particular morphology (obesity, taller size) or due to an androgen deficiency. A few arterial dysplasias cases of arteries's legs were described in patients with leg ulcers and Klinefelter syndrome. Haemostasis disorders presented in this case and normalized after androgen therapy will contribute to the physiopathologic discussion.
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PMID:[Leg ulcer and Klinefelter syndrome]. 854 3

An imbalance between estrogen action relative to androgen action at the breast tissue level results in gynecomastia. Enhancement of aromatization of androgens to estrogens is important in the pathogenesis of gynecomastia associated with obesity, aging, puberty, liver disease, thyrotoxicosis, 17-oxosteroid reductase deficiency. Klinefelter's syndrome, and neoplasms of the testes, adrenals and liver. A primary aromatase excess syndrome with exuberant gynecomastia had been found both sporadically and in a familial setting. Although aromatase inhibition would appear to be an important class of drugs to treat gynecomastia, relatively little published data with these drugs exist and most concern the use of delta1-testolactone, which reduces the size of the breast glandular tissue, but does not completely ameliorate the problem. Studies with the newer generation of more potent aromatase inhibitors need to be carried out.
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PMID:Aromatase and gynecomastia. 1073 Nov 25

Breast cancer in men is a rare disease, accounting for approximately 1% of all breast cancer cases. Although the epidemiologic literature regarding female breast cancer is extensive, relatively little is known about the etiology of male breast cancer (MBC). This review is intended to summarize the existing body of evidence on genetic and epidemiologic risk factors for breast cancer in men. Overall, the epidemiology of MBC presents similarities with the epidemiology of female breast cancer. Major genetic factors associated with an increased risk of breast cancer for men include BRCA2 mutations, which are believed to account for the majority of inherited breast cancer in men, Klinefelter syndrome, and a positive family history. Suspected genetic factors include AR gene mutations, CYP17 polymorphism, Cowden syndrome, and CHEK2. Epidemiologic risk factors for MBC include disorders relating to hormonal imbalances, such as obesity, testicular disorders (e.g., cryptorchidism, mumps orchitis, and orchiectomy), and radiation exposure. Suspected epidemiologic risk factors include prostate cancer,prostate cancer treatment, gynecomastia, occupational exposures (e.g., electromagnetic fields, polycyclic aromatic hydrocarbons, and high temperatures), dietary factors (e.g., meat intake and fruit and vegetable consumption), and alcohol intake.
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PMID:Epidemiology of male breast cancer. 1566 71

Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal craniosynostosis. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge.
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PMID:Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis. 1679 74

Prader-Willi syndrome is a complex multisystem disorder characterized by neonatal hypotonia, developmental delay, short stature, obesity, behaviour problems, hypothalamic hypogonadism and characteristic appearance. A number of sex chromosome abnormalities have been reported in children with Prader-Willi syndrome. We report on an infant with a 47, XXY karyotype and Prader-Willi syndrome diagnosed at 2 months of age. He is possibly the youngest to be reported with both Prader-Willi syndrome and Klinefelter syndrome. We have shown that the extra X chromosome causing Klinefelter syndrome is paternal in origin and Prader-Willi syndrome is due to maternal heterodisomy indicating that these two events occurred coincidentally.
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PMID:Prader-Willi and Klinefelter syndrome: a coincidence or not? 1735 60

Periventricular nodular heterotopia (PNH) is a rare neuronal migration disorder in which immature neurons fail to undergo a directed migration from the ventricular and subventricular zones to the cerebral cortex. Classic PNH occurs predominantly in females and is associated with periods of epilepsy and near-normal intelligence. One gene associated with PNH was mapped to chromosome Xq28. PNH with learning disability is reported in 15 male patients with several syndromes and various congenital abnormalities such as craniosynostosis, frontonasal malformation, and agenesis of the corpus callosum. We present a 26-year-old male patient who was followed up with the diagnosis of epilepsy from the age of 1 year. Additionally the patient had severe learning disability, obesity, and hypogonadism. Imaging of his brain demonstrated PNH. Klinefelter syndrome was clinically suspected, and analysis of his chromosomes revealed a karyotype 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3). Molecular techniques, such as subtelomere-specific fluorescent in-situ hybridization and multicolour banding, were also used. The same translocation was demonstrated in his mother and his maternal grandmother. This family might help to explain the gene localization of X-linked recessive PNH. In our patient, PNH is associated with familial (X;19) translocation. To our knowledge, this unique combination has not been reported in the medical literature.
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PMID:Bilateral periventricular nodular heterotopia, severe learning disability, and epilepsy in a male patient with 46,XY,der(19)t(X;19) (q11.1-11.2;p13.3). 1735 80


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