Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The supposed origin of non-functioning pituitary adenomas (NFPA) from gonadotrophs prompted us to investigate the effects of the gonadotropin-releasing hormone (GnRH) analog nafarelin on hormonal and tumoral parameters in eight patients with NFPA, previously unsuccessfully operated and all hypogonadal. Nafarelin was administered intranasally for 1 year to all patients. Four patients received a dose of 1200 micrograms/day; the remaining four received 800 micrograms/day for 3 months, which was subsequently increased to 1200 micrograms/day. Basal gonadotrophin and alpha-subunit (alpha SU) levels were low-normal. In four patients (nos. 1,2,3,5) nafarelin significantly lowered luteinizing hormone (LH) levels, and also follicle-stimulating hormone (FSH) in three of them (nos. 1,2,3). Persistent FSH stimulation occurred in three patients (nos. 6,7,8), with a transient slight LH increase only in patient no. 8. In one patient (no. 7), alpha SU levels were persistently stimulated. Hormonal responses to an acute GnRH test during nafarelin administration were generally blunted when compared to the pretreatment responses. Immunofluorescence results, obtained before treatment in five adenomas (nos. 2,3,4,6,7), hae been as follows: positive for FSH-beta in all; negative for LH-beta in all, except a few positive cells in case no. 4; positive for alpha SU in three (nos. 2,3,7). No changes of visual field and tumor size occurred in any patient during treatment. However, one patient who showed a persistent increase in FSH levels exhibited left palpebral ptosis after 12 months of therapy and underwent a second transsphenoidal surgery.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Effects of long-term treatment with the gonadotropin-releasing hormone analog nafarelin in patients with non-functioning pituitary adenomas. 816 61

Two sisters with blepharophimosis, ptosis, epicanthus inversus, and telecanthus were examined. Both patients also had amblyopia in the right eye and menstrual abnormalities associated with elevated serum luteinizing hormone and follicle-stimulating hormone. The patients' father was suspected of having blepharophimosis and ptosis. It is possible that the blepharophimosis syndrome observed in this family is of autosomal dominant inheritance. We believe that this condition of blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality found in our patients may be rare, and that the menstrual abnormality in these patients may be associated with ovarial failure.
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PMID:Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters. 853 74

We report on ovarian dysfunction in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). A gonadotropin releasing hormone test showed hyperresponses of luteinizing hormone (<0.2-->7.2 mIU/ml) and follicle-stimulating hormone (7.1-->44.8 mIU/ml), and a human menopause gonadotropin test yielded no estradiol response (13-->11 pg/ml). The results suggest that primary ovarian failure in type I BPES can take place in early childhood.
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PMID:Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. 1020 90

Follistatin is a transcriptional target and a modulator of activin action. Through an autocrine/paracrine loop, activin controls follistatin levels and thus regulates its own bioavailability. In gonadotropic alphaT3-1 cells, activin induces follistatin transcription primarily through the action of Smad3 at an intronic Smad-binding element (SBE1). Using a proteomics approach, we searched for endogenous alphaT3-1 proteins that participate in SBE1-mediated transcription. We identified FoxL2, a member of the forkhead family, as a candidate modulator of SBE1 function. Mutations of FoxL2 are associated with the blepharophimosis/ptosis/epicanthus inversus syndrome characterized with craniofacial defects and premature ovarian failure. FoxL2 localizes to alpha-glycoprotein subunit- and follicle-stimulating hormone beta-positive cells of the adult mouse pituitary and is present in alphaT3-1 and LbetaT2 cells, but its pituitary actions remain largely unknown. We have determined that FoxL2 binds to a forkhead-binding element (FKHB) located just downstream of the SBE1 site of the follistatin gene and functions as a Smad3 partner to drive SBE1-mediated transcription in alphaT3-1 cells treated with activin. Chromatin immunoprecipitation assays confirm that endogenous FoxL2 and Smad3 are recruited to the intronic enhancer of the follistatin gene where the SBE1 and FKHB sites are located. Exogenous FoxL2 enhances SBE1-mediated transcription, and short hairpin RNA-mediated knockdown of endogenous FoxL2 protein compromises this effect in alphaT3-1 cells. FoxL2 directly associates with Smad3 but not Smad2 or Smad4. This association between Smad3 and FoxL2 is mediated by the MH2 domain of Smad3 and is dependent on an intact forkhead domain in FoxL2. Altogether, these observations highlight a novel role for FoxL2 and suggest that it may function as a transcriptional regulator and a coordinator of Smad3 targets.
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PMID:FoxL2 and Smad3 coordinately regulate follistatin gene transcription. 1910 5

Here we report a 79-year-old woman who presented with a 7-day history of headache, nausea, vomiting, and was found to have proptosis and ptosis. Laboratory findings showed hyponatremia, hypocortisolism, secondary hypothyroidism and low follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels. CT angiography (CTA) showed a vascular lesion in sella causing a mass affect on the pituitary gland which proved to be a carotid cavernous fistula (CCF) by conventional angiography. The lesion was subsequently treated with coil placement and patient's hyponatremia was successfully treated with corticosteroid and thyroid hormone replacement. Though rare, CCF should be considered in the differential diagnosis of sellar lesions. Also, in patients with CCF hyponatremia, hypotension or signs of hypothyroidism should warrant a work-up for pituitary function.
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PMID:Hypopituitarism caused by carotid cavernous fistula. 2157 36