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Ovarian stimulation in a patient who suffered from partial (non-classical) 17 alpha-hydroxylase 17,20 lyase deficiency of the adrenal cortex and gonads is described. Diagnosis was based on measurements of high concentrations of steroid metabolites proximal to the enzymatic block (progesterone, 17-hydropregnenolone and 17-hydroprogesterone); with further rise following adrenocorticotrophic hormone (A-CTH) stimulation, and low steroid concentrations distal to the block. Her basal plasma oestradiol values were low and did not rise even during repeated treatment cycles with maximal ovarian stimulation. However, clinical presentation of ovarian hyperstimulation syndrome (OHSS) developed despite very low oestradiol concentrations, thus seriously questioning the role of oestradiol in the pathogenesis of this condition. The poor correlation between clinical presentation of OHSS and plasma oestradiol values, as presented in this case, supports other data which conclude that oestradiol measurements alone are not sufficient to alert the physician to the possible development of OHSS.

human reproduction

Endocrinology: Ovarian hyperstimulation syndrome with low oestradiol in non-classical 17 -hydroxylase, 17,20-lyase deficiency: what is the role of oestrogens?