Résumé
Testicular feminization syndrome as rare cause of tumoral elevation of testosterone in women
Dr P. KAZAKOUa, Dr P. SAXa, Dr C. GERVYa, Pr B. CORVILAINa, Pr N. DRIESSENSa
a Hôpital Erasme, Faculty of Medicine, Université Libre de Bruxelles, Belgium, Bruxelles
The aim of our work was to evaluate the number and final diagnosis of women with an elevation of total testosterone ≥1.6 ng/ml measured by direct RIA assay (normal range:0.2-0.8ng/ml).
From the database of the lab (between 2004 and 2013), we analyzed data from 130 women. The distribution showed that over half patients had total testosterone <2 ng/ml and 85% ≤3 ng/ml.
In 17 patients with total testosterone >3 ng/ml, diagnosis were: unknown because of unavailable data (n=3), men misclassified as women by data processing (n=2), pregnancy with normal free testosterone index (n=2), transgender patients (n=2), androgen therapies in post-menopausal women (n=3), congenital adrenal hyperplasia (n=3), adrenocortical tumor (n=1) and androgen insensitivity syndrome (n=1).
This last 24-year-old woman was initially referred for pelvic IRM because of suspicion of Mayer-Rokitansky-Küster-Hauser syndrome. The patient had a normal female phenotype with breast development, no clinical signs of hyperandrogenism or virilization but primary amenorrhea. IRM showed absence of Müllerian structures (uterus, fallopian tubes) and presence of two gonads in the abdomen.
Biology showed elevated total testosterone (8.4 ng/ml) with normal SHBG conferring elevated free testosterone index, low oestradiol and normal LH and FSH.
Karyotype analysis demonstrated a male chromosomal sex (46XY) confirming the diagnosis of complete androgen insensitivity. Finally, FISH analysis by using a SRY gene probe confirmed the presence of SRY gene on Y chromosome.
In conclusion, a systematic analysis of the lab database was a tool to detect an external case for which both academic and multidisciplinary follow up may be helpful.
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