Mixed gonadal dysgenesis, karyotype 47 XO (76%), 46 XY (24%), other not described abnormalities

Abstract

Background. Recently Matulevicius et al (2014) described a women, which had hypersecretion of dehydroepiandrosterone sulphate (DHEAS) and multiple clinical symptoms. Symptoms disappeared after adrenal tumour resection. Such cases were described rarely, being frequently incidental findings. Taking in consideration signs and symptoms of previously described cases, we started to look retrospectively for more cases with high DHEAS and adrenal/ovarian tumours. Aim. To report a clinical case of mixt gonadal dysgenesis with specific karyotype and other abnormalities, not described until now: petrocloval meningioma, labia majora agenesis and idiopathic dehydroepiandrosteronism. Methods. Presentation of clinical case with comments. Results. A woman of 37 years old was presented to a doctor with diagnosed primary amenorrhea and infertility. Physical examination showed Turner syndrome-like clinical characteristics and virilisation. 5 years ago petroclival meningioma was diagnosed. Surgical intervention was postponed. During gynecological examination clitoromegaly was found with absence of labia majora. Perpheral blood lymphocyte culture revealed mosaic karyotype – mos. 45, X [32] / 46, XY [10]. X monosomy was found in 76% of cell clones and 27% of cells had a male karyotype. Blood hormone tests revealed high concentrations of gonadotropins (LH –11.3 U/L, FSH – 29.4 U/L), which confirmed the diagnosis of gonadal dysgenesis –hypergonadotropic hypogonadism. Other hormone levels showed increased levels of DHEAS and testosterone. In order to define the reason of increased DHEAS concentration, low and high dose dexamethasone suppression tests were performed, which revealed incomplete suppression of DHEAS concentration. ACTH stimulation test results were normal. In half an hour DHEAS rhythm test, a variation of gonadotropin was not detected. Imagine tests showed no specific tumors in adrenal glands. [...].