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      Deficiency of 17-Ketoreductase Presenting Before Puberty

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          The diagnosis of 17-ketoreductase deficiency is established in most patients at or after puberty when basal plasma androstenedione levels are high; data on prebubertal children are limited. Two infants with external female genitalia presented in infancy with inguinal herniae and palpable gonads. Both had a 46, XY karyotype, a short vagina, absent uterus, and a gonadal biopsy showing testicular tissue. The value of an hCG stimulation test in making the diagnosis of 17-ketoreductase deficiency was confirmed by a minimal plasma testosterone but marked androstenedione response. Androgen receptor deficiency based on studies in genital skin fibroblasts was demonstrated in one of the cases. We speculate that this is possibly the result of failed induction of receptors secondary to androgen deficiency. Though ‘tomboyish’ in behaviour, both children are reared as girls.

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          Author and article information

          Horm Res Paediatr
          Hormone Research in Paediatrics
          S. Karger AG
          05 December 2008
          : 40
          : 4
          : 145-148
          aDepartment of Child Health, University of Newcastle upon Tyne; bDepartment of Child Health, University of Wales, College of Medicine, Cardiff; cDepartment of Paediatrics, University of Cambridge School of Clinical Medicine, Cambridge, UK, and dDepartment of Paediatrics, University of Zürich, Kinderspital Zürich, Switzerland
          183784 Horm Res 1993;40:145–148
          © 1993 S. Karger AG, Basel

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          Pages: 4
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