Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin

August 2020 in “ JCRPE ”

Carla Bizzarri, Germana Giannone, Jacopo Gervasoni, Sabina Benedetti, Federica Albanese, Luca Dello Strologo, Isabella Guzzo, Mafalda Mucciolo, Francesca Diomedi Camassei, Francesco Emma, Marco Cappa, Ottavia Porzio

Denys-Drash syndrome hyperandrogenism testosterone gonadotrophin estradiol prophylactic gonadectomy biotin immunoassay liquid chromatography tandem mass spectrometry

TLDR A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.

A 15-year-old girl with Denys-Drash syndrome, characterized by kidney disease and genital abnormalities, was initially misdiagnosed with hyperandrogenism due to elevated testosterone levels. Despite normal gonadotrophin and estradiol levels, her testosterone was reported as high as 285 ng/dL. After undergoing prophylactic gonadectomy, her testosterone levels remained unexpectedly high at 157 ng/dL. It was later discovered that she had been consuming high doses of biotin daily, which interfered with the immunoassay measurements of her hormone levels. When her testosterone levels were re-evaluated using liquid chromatography tandem mass spectrometry, they were found to be within normal ranges. The study highlights the importance of considering biotin interference in patients with discordant clinical and biochemical presentations and underscores the need for better communication among patients, healthcare providers, and laboratory professionals regarding the potential for biotin to affect immunoassay results.

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