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Gary D. Berkovitz, MD; Peter A. Lee, MD, PhD; Terry R. Brown, PhD; Claude J. Migeon, MD

Am J Dis Child. 1984;138(8):755-759.

Abstract
• We outlined a diagnostic scheme for use with prepubertal patients with male pseudohermaphroditism (MPH) that included karyotyping, a genitourethrogram, a human chorionic gonadotropin stimulation test with plasma hormone level determinations, and determination of 5-reductase activity and androgen receptor binding in genital skin fibroblasts. A thorough evaluation is warranted in all patients since the correct diagnosis may assist in determining gender assignment and providing appropriate genetic counseling. We studied 25 patients by the prescribed diagnostic scheme: seven of them had a partial gonadal dysgenesis, two were deficient in 5-reductase activity, two showed partial androgen insensitivity, four had multiple congenital malformations, one had a Wilms' tumor, and nine were considered as having an idiopathic form of MPH.

(AJDC 1984;138:755-759)

Author Affiliations
From the Department of Pediatrics, Pediatric Endocrine Laboratories, The Johns Hopkins Hospital, Baltimore (Drs Berkovitz, Brown, and Migeon); and the Department of Pediatrics, Children's Hospital, University of Pittsburgh (Dr Lee).

Footnotes
Reprint requests to CMSC 3-110, The Johns Hopkins Hospital, Baltimore, MD 21205 (Dr Berkovitz).

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