1/11. Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.We report on the multistep progression to the correct genetic diagnosis in an apparently new syndrome of mental retardation and multiple congenital anomalies, including hypogenitalism and polymicrogyria. We had previously reported it as an X-linked condition affecting four members (three males and one female) of a family [Zollino et al., 1992: Am J Med Genet 43:452-457]. Two of the four patients, both males, presented with a brain abnormality that was initially described as pachygyria, while the remaining two (one male and one female) did not. Our present study includes a clinical follow-up on the patients, neuroradiological reexamination of one patient, X linkage studies and X inactivation analyses, and finally molecular cytogenetics, which allowed us to establish definitely the genetic causes of the condition. After the detection of a subtle t(1;12)(q44;p13.3) balanced translocation in healthy carriers, two unbalanced segregation products were observed in different patients, resulting in 1q44qter monosomy and 12p13.3pter trisomy in patients with polymicrogyria and severe psychomotor delay, 12p13.3pter monosomy and 1q44qter trisomy in the other two patients without polymicrogyria, with less severe mental retardation and less distinctive physical anomalies. Thus, this condition is no longer to be considered X-linked, but the result of cryptic autosomal imbalance. Furthermore, this study identified an approximately 14 Mb interval in 1q44qter pathogenetically related to polymicrogyria.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/11. brain tumor presenting as anorexia nervosa in a 19-year-old man.Slow-growing brain tumors can produce disturbances of food intake and endocrine dysfunction. We report a case of slow-growing midline brain tumor in a patient with clinical presentation of anorexia nervosa (AN). A 19-year-old man was referred from a general practitioner to a psychiatric clinic due to illness behavior and psychopathological characteristics of AN. His body weight had decreased from 52 kg to 40 kg within 6 months. Laboratory tests showed hypernatremia (160 mmol/L), adrenal insufficiency (adrenocorticotrophic hormone, 11.4 pg/mL; 8 am cortisol, 1.4 microg/dL; 4 pm cortisol, 11.4 microg/dL) and hypogonadotropic hypogonadism (testosterone < 0.5 ng/mL, follicle-stimulating hormone < 0.1 mIU/mL, luteinizing hormone < 0.7 mIU/mL). brain magnetic resonance imaging showed an extensive mass lesion at suprasellar, hypothalamic region, third ventricle, pineal region, lateral ventricle, and corpus callosum. Owing to central herniation during physical assessment, he died of unknown intracranial pathology. This case suggests that an intracranial tumor near the hypothalamus should be included in the differential diagnosis of AN. Any male adolescent with the clinical impression of AN should receive periodic re-evaluation, including neurological, endocrinological and, if necessary, neuroimaging study.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/11. Bacterial pituitary abscess: an unusual cause of panhypopituitarism.OBJECTIVE: To describe a case of primary bacterial pituitary abscess manifesting as hypopituitarism. methods: We present the case history, hormonal and bacteriologic data, and findings on imaging studies in a 34-year-old man. RESULTS: The patient had an 8-month history of intermittent fever, headache, nausea, vomiting, and weight loss. Because a computed tomographic scan of the head showed a cystic sellar mass with ring enhancement, he was referred to our medical center. On physical examination, he showed signs of meningeal irritation and had mild hypotension. Hormonal evaluation revealed evidence of hypocortisolism, hypothyroidism, and hypogonadism. Three weeks after treatment with antibiotics and hormonal replacement, he underwent transsphenoidal surgical exploration and evacuation of purulent material from the sella. On culture, this specimen grew coagulase-negative staphylococci and propionibacterium granulosum. Nine months later, dynamic testing showed persistent central hypocortisolism, hypothyroidism, and hypogonadism. CONCLUSION: Bacterial pituitary abscess is rare but manifests similar to other pituitary masses with headaches, visual field defects, and hormonal disturbances. For the correct preoperative diagnosis of this condition, the physician must have a high index of suspicion, and the characteristic ring enhancement must be present on imaging studies.- - - - - - - - - - ranking = 7.6520177099328keywords = physical examination, physical (Clic here for more details about this article) |
4/11. testosterone replacement therapy for treatment refractory cluster headache.OBJECTIVES: To describe the clinical characteristics and laboratory findings of cluster headache patients whose headaches responded to testosterone replacement therapy. BACKGROUND: Current evidence points to hypothalamic dysfunction, with increased metabolic hyperactivity in the region of the suprachiasmatic nucleus, as being important in the genesis of cluster headaches. This is clinically borne out in the circadian and diurnal behavior of these headaches. For years it has been recognized that male cluster headache patients appear overmasculinized. Recent neuroendocrine and sleep studies now point to an association between gonadotropin and corticotropin levels and hypothalamically entrained pineal secretion of melatonin. RESULTS: Seven male and 2 female patients, seen between July 2004 and February 2005, and between the ages of 32 and 56, are reported with histories of treatment resistant cluster headaches accompanied by borderline low or low serum testosterone levels. The patients failed to respond to individually tailored medical regimens, including melatonin doses of 12 mg a day or higher, high flow oxygen, maximally tolerated verapamil, antiepileptic agents, and parenteral serotonin agonists. Seven of the 9 patients met 2004 International classification for the diagnosis of Headache criteria for chronic cluster headaches; the other 2 patients had episodic cluster headaches of several months duration. After neurological and physical examination all patients had laboratory investigations including fasting lipid panel, PSA (where indicated), LH, FSH, and testosterone levels (both free and total). All 9 patients demonstrated either abnormally low or low, normal testosterone levels. After supplementation with either pure testosterone in 5 of 7 male patients or combination testosterone/estrogen therapy in both female patients, the patients achieved cluster headache freedom for the first 24 hours. Four male chronic cluster patients, all with abnormally low testosterone levels, achieved remission. CONCLUSIONS: Abnormal testosterone levels in patients with episodic or chronic cluster headaches refractory to maximal medical management may predict a therapeutic response to testosterone replacement therapy. In the described cases, diurnal variation of attacks, a seasonal cluster pattern, and previous, transient responsiveness to melatonin therapy pointed to the hypothalamus as the site of neurological dysfunction. prospective studies pairing hormone levels and polysomnographic data are needed.- - - - - - - - - - ranking = 7.6520177099328keywords = physical examination, physical (Clic here for more details about this article) |
5/11. association of carotene rich diet with hypogonadism in a male athlete.AIM: To report on a unique case of hypogonadism associated with excessive carotene intake in a young male athlete. CASE REPORT: A 20-year-old patient presented with a gradual decline in muscular and physical activity, sexual interest and erectile ability associated with a high in carotene and low in animal fat diet of his own design a year prior to the clinical manifestations. Clinically, he presented with very overt signs of carotene excess: his palms and soles were yellow. Moreover, 2 weeks after normalization of his diet, carotene B levels were at the upper end of the normal range. methods: Repeated stimulation tests of hypothalamic, pituitary and testicular function were performed before and at 3, 6 and 12 months after the introduction of a balanced diet. RESULTS: Very low basal and stimulated values for gonadotropins and gonadal steroids were found at the initial evaluation with a progressive recovery shown after months of a balanced diet and carotene B restoration. Complete androgen secretion and sexual response recovery were observed only after 9-12 months from diagnosis. CONCLUSION: This is the first report associating excessive carotene intake with a hypothalamic form of hypogonadism in a young man.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/11. Induction of puberty: long-term treatment with high-dose LHRH.Gonadotropin releasing hormone 500 mcg was administered twice daily to four patients (two male, two female) with hypogonadotrophic hypogonadism due to LHRH deficiency, for a minimum of 1 year. Despite initially encouraging biochemical responses and physical changes in all four patients, gonadotrophin responsiveness waned, sex steroid levels were not maintained and pubertal development has not occurred. This diminishing responsiveness appears to be a severe limitation on the use of LHRH as a therapeutic agent.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/11. Transdermal testosterone treatment of hypogonadal men.hypogonadism, either primary or secondary, results in diminished libido and/or impotence. Conventional treatment consists of periodic intramuscular injections (usually bimonthly) of a depot testosterone preparation or daily oral ingestion of methyl testosterone. These conventional treatments may be associated with side effects, such as gynecomastia, liver function abnormalities and edema. A new method of administering testosterone is by daily application of a transdermal therapeutic system. We studied the efficacy and safety of the transdermal therapeutic system in 4 hypogonadal men. Three patients were treated for 12 weeks and 1 for 7 weeks, and they were evaluated weekly. Of 4 patients 3 had improvement in erectile and/or sexual function. Mean plasma testosterone levels increased significantly compared to pre-treatment values during 7 of 12 treatment weeks. There were no adverse effects of the transdermal therapeutic system as indicated by serial physical examinations, daily reports, blood chemistry studies, liver function tests, urinalysis and hematological profiles. This preliminary report of transdermal testosterone delivery indicates that it may provide an effective alternative method of gonadal steroid replacement.- - - - - - - - - - ranking = 7.6520177099328keywords = physical examination, physical (Clic here for more details about this article) |
8/11. trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet.trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/11. Familial cardiomyopathy, hypogonadism, and collagenoma.A patient with tricuspid regurgitation by clinical evaluation, cardiac catheterization, and angiography was found at autopsy to have a cardiomyopathy involving both ventricles but with predominant involvement of the right ventricle. He also had primary testicular failure and a distinctive type of collagenoma. The patient's two brothers were examined and found to have similar collagenomas and testicular failure. Evidence for a mild to moderate degree of cardiomyopathy was also apparent by findings on physical examination, chest roentgenogram, electrocardiogram, and echocardiogram. The father was known to have had a similar skin lesion and congestive heart failure. The aspects of the clinical presentation of this patient and the findings in the two brothers are discussed. A common genetic link in this familial syndrome is not elucidated.- - - - - - - - - - ranking = 7.6520177099328keywords = physical examination, physical (Clic here for more details about this article) |
10/11. hypogonadism as a cause of recurrent muscle injury in a high level soccer player. A case report.Hypogonadotropic hypogonadism is a well known entity in highly trained female athletes. In male sportsmen, resting testosterone levels may be lowered especially in well endurance trained athletes and during high intensity training periods, frequently in combination with excessive weight reduction. However, only few reports illustrate a clinical pathology related to this state. In this report, where we present a case of a high level soccer player with recurrent muscle injuries over several years, hypogonadism was caused by sports activity together with an impaired testicular function (cryptorchidy). Clinical findings included testicular maldevelopment, decreased libido, infertility and a high incidence of muscle strains and delayed post-exercise soreness in mainly eccentric exercised muscle groups. Laboratory findings showed abnormally lowered resting testosterone values, most prominent during training periods, and an unfavourable testosterone/cortisol ratio during recuperation after exercise. With respect to treatment of the problem, neither any form of physical therapy nor rehabilitation program could give long lasting benefit. Using tamoxifen, an anti-oestrogenic drug, which stimulates LH and FSH production, we not only observed normal physiological resting testosterone values and a restoration of the testosterone/cortisol ratio after exercise, but our patient also experienced a higher sexual drive, well being and a spectacular decrease in the muscle injury rate. Although this patient was not a highly endurance trained athlete, we assume that a chronic anabolic/catabolic hormone imbalance may be of greater clinical importance in sports activity based on eccentric and explosive muscle work.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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