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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The first report of the rare combination of myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism was reported. The patient was a 21-year-old man who presented with stiffness of the muscles for 12 years and a history of generalised convulsion for 8 years. His school studies declined gradually and his secondary schooling was interrupted. Examination revealed a muscular young man with myotonic percussion over the muscles of the body as well as the myotonic lid lag. Chvostek's sign was positive and his serum calcium level was very low whereas the serum phosphate was high. Symmetrical and extensive calcification of the brain parenchyma was demonstrated in the CT scan. His secondary sexual characteristics were not well developed and his testes were very small. Chromosome study confirmed the diagnosis of Klinefelter syndrome by the identification of 47 XXY chromosome. He was prescribed calcium replacement and the anticonvulsant was withheld with no more episodes of seizure.
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PMID:Myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism: the first report of the unusual combination of three rare diseases in the literature. 186 Nov 36

Animal experimental and human clinical investigations show that estrogens lower and progestins raise many seizure thresholds. In women, seizure frequency varies with the serum estradiol to progesterone ratio. The fluctuation of this ratio during the menstrual cycle is a major factor in catamenial epilepsy. A decline in serum antiseizure medication levels premenstrually may be another factor. Estradiol to progesterone ratios are elevated in anovulatory or inadequate luteal phase cycles. This may explain a propensity for seizure onset at the time of menarche and the exacerbation of seizures during the months or years leading up to menopause. It may also be an important factor in the association between reproductive endocrine disorders and epilepsy. Specifically, polycystic ovarian syndrome and hypogonadotropic hypogonadism are significantly overrepresented among women with epilepsy. Epilepsy may promote the development of these disorders. These disorders, in turn, are characterized by inadequate luteal phase cycles that may promote the development or occurrence of seizures. In the setting of catamenial epilepsy or reproductive endocrine disorders, progestins, such as natural progesterone and parenteral medroxyprogesterone, or antiestrogenic agents, such as clomiphene, constitute rational and effective adjuncts to therapy.
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PMID:Reproductive endocrine considerations and hormonal therapy for women with epilepsy. 195 9

Androgen deficiency is unusually common among men with epilepsy. It may contribute to reproductive and sexual dysfunction and possibly exacerbate seizure frequency. The most important androgen is testosterone. it exists in the serum in a free form or bound to albumin or sex hormone-binding globulin (SHBG). Free testosterone levels have correlated significantly with measures of potency and sexual interest. The possibility that measures of non-SHBG-bound testosterone may provide a more sensitive assessment of biologically and perhaps clinically significant androgen levels is raised for consideration. Androgen deficiency may result from increased catabolism and binding induced by antiepileptic drugs (AEDs). It is a feature of the reproductive endocrine disorders that are often associated with epilepsy: hypogonadotropic hypogonadism, hypergonadotropic hypogonadism, and functional hyperprolactinemia. It may be a consequence of medication-induced elevations in serum estradiol. Estradiol exerts a potent inhibitory influence on luteinizing hormone secretion and may contribute to premature aging of the reproductive system, both at the level of the testes and the hypothalamus. Testosterone therapy may moderately benefit reproductive and sexual function. Despite its antiseizure effects in animal experiments, however, it has not been reported to improve seizures clinically. One possible explanation is that AEDs that induce enzyme synthesis may enhance the conversion of testosterone to estradiol by aromatase. This possibility is supported by the improved seizure control achieved with the adjunctive use of the aromatase inhibitor testolactone or the antiestrogen clomiphene.
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PMID:Reproductive endocrine considerations and hormonal therapy for men with epilepsy. 195 10

Of 50 consecutive women with partial seizures of temporal lobe origin (temporal lobe epilepsy [TLE]) evaluated for reproductive dysfunction, 28 had menstrual problems. Of those, 19 had reproductive endocrine disorders. Polycystic ovarian syndrome and hypogonadotropic hypogonadism occurred significantly more often in women with TLE than in the general female population. Polycystic ovarian syndrome was associated with predominantly left-sided lateralization of interictal epileptic discharges; hypogonadotropic hypogonadism was more commonly found with right-sided discharges. Hyposexuality occurred more often in women with predominantly right-sided interictal epileptic discharges and was associated with low serum luteinizing hormone levels. There are several possible interpretations: epileptic discharges in medial temporal limbic structures may disrupt hypothalamic regulation of pituitary gonadotropin secretion; anovulatory cycles of reproductive endocrine disorders may promote the development of epileptic discharges; and TLE and some associated reproductive endocrine disorders may represent the parallel effects of prenatal factors common to the development of the brain and the reproductive system.
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PMID:Reproductive endocrine disorders in women with partial seizures of temporal lobe origin. 293 94

Twenty consecutive men with partial seizures of temporal lobe origin were evaluated for sexual or reproductive dysfunction. Eleven (55%) had diminished sexual interest or reduced potency. Nine of them had reproductive endocrine disorders, with features of hypogonadotropic hypogonadism in five, hyperprolactinemia in two, and hypergonadotropic hypogonadism in two. Among these nine were cases in which the reproductive endocrine abnormalities could not readily be attributed to antiseizure medication use. Other possible interpretations are as follows: epileptic discharges in medial temporal lobe structures may disrupt hypothalamic regulation of pituitary secretion, hypogonadism may promote the development of epileptic discharges, and temporal lobe epilepsy and associated reproductive endocrine disorders may represent the parallel effects of prenatal factors common to the development of both the brain and the reproductive system.
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PMID:Reproductive endocrine disorders in men with partial seizures of temporal lobe origin. 308 13

Clinical seizures ceased during six months of clomiphene citrate therapy in a 36-year-old man who had hypogonadotropic hypogonadism, reproductive dysfunction, and a 16-year history of regular seizures. Seizures recurred during the month that followed the discontinuation of clomiphene therapy. This apparent antiseizure effect of clomiphene is discussed in terms of three possible mechanisms of action: (1) Clomiphene may benefit seizures by raising serum levels of antiseizure medications. (2) Clomiphene may improve seizures by normalizing serum testosterone levels. (3) Clomiphene may act at a cerebral level to lessen seizures. A controlled investigation of the effects of clomiphene on epilepsy in the setting of reproductive dysfunction is suggested.
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PMID:Seizure control with clomiphene therapy. A case report. 334 36

A boy with neonatal hypoglycemia, genital hypoplasia and frontal prominence ahd recurrence of hypoglycemic seizures at age 17 months. There was no plasma growth hormone (GH) response to sleep, arginine, hypoglycemia or glucagon. Mild secondary hypothroidism and primary hypogonadism were demonstrated. Small dose testosterone therapy for three months resulted in normal penile size; weekly injections of GH accelerated linear growth to a normal pace. Whether this complex represents a true syndrome or part of the spectrum of panhypopituitarism remains to be answered.
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PMID:Growth hormone deficiency with hypoglycemia, genital hypoplasia and frontal prominence. 447 Aug 95

In this study, we report the cases of five unrelated patients with Klinefelter's syndrome and seizures or EEG epileptiform abnormalities; the karyotype was 47,XXY in four, and 47,XXY/46,XX in one. They were aged 13-25 years and followed up both clinically and by means of EEG. Two of the patients had epilepsy, one had only one isolated generalized tonic-clonic seizure, one had febrile convulsions and one presented focal epileptiform EEG abnormalities without seizures. In two of the patients, it was possible to classify the epilepsy (childhood epilepsy with occipital paroxysms and cryptogenic or symptomatic generalized epilepsy). Although the electroclinical patterns appeared to be rather heterogeneous in our patients, it is possible to infer the relative good evolution of seizures in Klinefelter's syndrome.
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PMID:Seizures in Klinefelter's syndrome: a clinical and EEG study of five patients. 759 75

Male epileptic patients frequently complain of sexual dysfunction, particularly impotence and loss of libido. Epilepsy itself, antiepileptic drugs (AEDs), and psychosocial factors are believed to contribute to impaired sexuality. We studied luteinizing hormone (LH) pulsatile secretion, gonadotropin, and prolactin (PRL) responses to LH-releasing hormone (LHRH) and thyrotropin-releasing hormone (TRH) in 37 adult male epileptic patients receiving AED monotherapy who were seizure-free and had normal EEGs. Sexuality was assessed by psychological interview. Impotence was diagnosed in 8 patients (in 2 combined with loss of sexual desire). The occurrence of hyposexuality (approximately 20%) was independent of epilepsy syndrome or AED. No change in total testosterone (T) level was observed. Free T (fT) and dihydrotestosterone (DHT) levels were lower and sex hormone binding globulin (SHBG) levels were higher in epileptic subjects than in healthy controls, but a statistically significant difference was not observed between hypo- and normosexual patients. In impotent epileptic patients, estradiol (E2) levels were significantly increased as compared with those of patients with preserved sexuality and of healthy controls. The unbalanced relation between androgen and E2 levels was emphasized by decreased T/E2, fT/E2, and DHT/E2 ratios obtained in hyposexual epileptic patients. In this group, LHRH induced blunted LH peaks. No changes were noted in LH pulsatility features. These findings of higher E2 levels and of decreased LH response to LHRH administration in some epileptic patients with impaired sexuality, may suggest they have subclinical hypogonadotropic hypogonadism.
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PMID:Sex hormones and pituitary function in male epileptic patients with altered or normal sexuality. 760 14

We present here magnetic resonance imaging (MRI) and single photon emission computed tomography with 123I-N-isopropyl-p-iodoamphetamine (123I-IMP-SPECT) of a patient suffering from Klinefelter's syndrome with various neuropsychiatric symptoms. He was a 30-year-old male, who showed impaired consciousness seizures, auditory hallucination, delusion of reference, delusion of grandeur, psychomotor excitement and intellectual impairment. Although no focal lesion was detected by computed tomography or T1-weighted MRI, T2-weighted MRI provided a heterogeneous high-signal-intensity lesion of the inferior part of the left temporal lobe, which was not enhanced with Gd-DTPA. In addition 123I-IMP-SPECT exhibited focal hypoperfusion in the left temporal lobe on the early images. We suggest that the neuropsychiatric symptoms of this case are associated with the focal organic brain dysfunction which was revealed by MRI and 123I-IMP-SPECT.
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PMID:MRI and SPECT of Klinefelter's syndrome with various neuropsychiatric symptoms: a case report. 791 Nov 67


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