ArticleActa endocrinologica (Bucharest, Romania : 2005)
THE RARE CASE OF MIXED GONADAL DYSGENESIS, MOSAIC KARYOTYPE, PETROCLIVAL MENINGIOMA AND IDIOPATHIC HYPERDEHYDROEPIANDROSTERONISM.
Article in Acta endocrinologica (Bucharest, Romania : 2005). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundMosaic karyotype 45,X/46,XY related mixed gonadal dysgenesis.
aimTo report a case of mosaic karyotype and petroclival meningioma.
methodsPresentation of a clinical case with comments.
resultsThe case of a 37-year-old woman mosaic karyotype - 45,X/46,XY, infertility, virilisation, Turner syndrome-like phenotype, primary amenorrhea, the absence of labia majora and petroclival meningioma. Concentrations of dehydroepiandrosterone sulphate (DHEAS), testosterone, luteinizing hormone (LH) and follicular stimulating hormone (FSH) were increased indicating hypergonadotropic hypogonadism. Low and high dose dexamethasone suppression tests demonstrated incomplete suppression of DHEAS concentration without connection between pulses of LH/FSH and DHEAS. Response to adrenocorticotropic hormone (ACTH) was normal. The morning/evening concentration ratio of DHEAS was very low in comparison with cortisol, ACTH and testosterone. Head magnetic resonance imaging (MRI) demonstrated petroclival meningioma without any adrenal or ovary abnormality. Menstruation started after treatment with 2 mg of estradiol. At control visit 1.5 years later she had no complaints. MRI did not demonstrate any signs of tumour progression.
conclusionsThe main lesson learned from this case is that in searching the DHEAS secreting tumours one can find unusual cases with sustained high DHEAS and lack of confirmations of polycystic ovary syndrome, adrenal or ovary tumours using available ultrasound, CT and MRI.
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