Prostate Screening In Patients With 46,XY Disorders Of Sex Development - Is It Necessary?

Main Category: Prostate / Prostate Cancer
Also Included In: Urology / Nephrology
Article Date: 26 Sep 2008 - 4:00 PDT

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UroToday.com - Whether intersex patients should undergo prostate cancer (CaP) screening is unclear. In the October issue of the Journal of Urology, Dr. Amirali Hassanzadeh Salmasi and colleagues at Johns Hopkins evaluated such a patient population and provided recommendations.

The rationale for the study is that 46,XY patients may have abnormal androgen receptor expression and function - making the prostate more susceptible to malignancy. The patient cohort consisted of 26 adult 46,XY patients followed at the pediatric endocrinology clinic and raised as male or female. Diagnoses included micropenis, congenital adrenal insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mixed gonadal dysgenesis (MGD). In the CAIS patients, AR gene mutation and clinical and laboratory criteria were used to make the diagnosis. The PAIS group consisted of several phenotypes ranging from patients with a predominantly female appearance to those with ambiguous genitalia or with a predominant male phenotype. The diagnosis of PAIS was based on AR studies in genital skin fibroblasts. Micropenis patients had a penis less than 2.5 standard deviations below the mean for age, and MGD patients had a unilateral dysgenetic testis and a contralateral streak gonad. Patients had DRE, PSA, testosterone and dihydrotestosterone (DHT) levels measured.

Diagnoses included micropenis (8), CAIS (3), PAIS (9), and MGD (6). Mean patient age was 38 years; 9 were raised as females. PSA was <0.1ng/ml in 18 patients, including all those raised as females. PSA was 0.1 to 0.9ng/ml in the other 8 patients. No differences in testosterone levels were found between those reared as male with a measurable PSA and those with PSA levels <0.1ng/ml. Gonadectomies had been performed in all female-reared and one male-reared patient. All patients had a small prostate on DRE and 4 male-reared patients were on supplemental testosterone.

The authors recommend screening patients with 46,XY DSD, reared-as-male, with PSA and DRE but were less inclined to recommend any screening of female patients (although no definitive recommendation was made). In the editorial comments, it is pointed out by Dr. Grubb that there has never been a report of CaP in this specific patient population.

Salmasi AH, Wisniewski AB, Novak TE, Gearhart JP, Migeon CJ, Lakshmanan Y
Urol 2008;180:1422-1426
doi:10.1016/j.juro.2008.06.043

Written by UroToday.com Contributing Editor Christopher P. Evans, MD, FACS

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