Dehydroepiandrosterone sulfate (DHEAS) secretion in women. Part II: Idiopathic hyperdehydroepiandrosteronism, mixed gonadal dysgenesis and other not described abnormalities. Case report

Abstract

INTRODUCTION: After Matulevicius et al (2014) described a women, which had hypersecretion of dehydroepiandrosterone sulfate (DHEAS) and multiple clinical symptoms, we started to look retrospectively for more cases with high DHEAS in women.OBJECTIVE: To report a clinical case of mixt gonadal dysgenesis with specific karyotype and petroclival meningioma, labia majora agenesis and idiopathic hyperdehydroepiandrosteronism (DEHISM). MATERIAL AND METHODS: Presentation of clinical case with comments. RESULTS: A woman of 37 years old was referred with diagnosed primary amenorrhea and infertility. Physical examination showed Turner syndrome-like clinical characteristics and virilisation. 5 years ago petroclival meningioma was diagnosed. Gynecologically, clitoromegaly was found with absence of labia majora. Karyotype was - mos. 45, X [32] / 46, XY [10]. X monosomy was found in 76% of cell clones and 24% of cells had a male karyotype. High concentrations of gonadotropins, DHEAS and testosterone were detected. Imagine tests showed no specific tumors in adrenal glands. The ovaries were involutional, without any signs of malignancy. High DHEAS concentration cause remained unknown. CONCLUSION: Described woman had mixed gonadal dysgenesis, mosaicismal karyotype, petroclival meningioma, labia majora agenesis and DEHISM.This pathology is characterized by sustained DHEAS hypersecretion without identification of adrenal/ovary tumor with available imaginative technics.