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Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
Bizzarri, Carla; Antonella Giannone, Germana; Gervasoni, Jacopo; Benedetti, Sabina; Albanese, Federica; Dello Strologo, Luca; Guzzo, Isabella; Mucciolo, Mafalda; Diomedi Camassei, Francesca; Emma, Francesco; Cappa, Marco; Porzio, Ottavia.
Afiliación
  • Bizzarri C; IRCCS Ospedale Pediatrico Bambino Gesù, Unit of Endocrinology, Rome, Italy
  • Antonella Giannone G; IRCCS Ospedale Pediatrico Bambino Gesù, Unit of Medical Laboratory, Rome, Italy
  • Gervasoni J; Fondazione Policlinico Universitario A. Gemelli IRCCS; Università Cattolica del Sacro Cuore, Rome, Italy
  • Benedetti S; IRCCS Ospedale Pediatrico Bambino Gesù, Unit of Medical Laboratory, Rome, Italy
  • Albanese F; IRCCS Ospedale Pediatrico Bambino Gesù, Unit of Medical Laboratory, Rome, Italy
  • Dello Strologo L; IRCCS Ospedale Pediatrico Bambino Gesù, Units of Nephrology and Dialysis, Rome, Italy
  • Guzzo I; IRCCS Ospedale Pediatrico Bambino Gesù, Units of Nephrology and Dialysis, Rome, Italy
  • Mucciolo M; IRCCS Ospedale Pediatrico Bambino Gesù, Medical Genetics Laboratory, Rome, Italy
  • Diomedi Camassei F; IRCCS Ospedale Pediatrico Bambino Gesù, Unit of Pathology, Rome, Italy
  • Emma F; IRCCS Ospedale Pediatrico Bambino Gesù, Units of Nephrology and Dialysis, Rome, Italy
  • Cappa M; IRCCS Ospedale Pediatrico Bambino Gesù, Unit of Endocrinology, Rome, Italy
  • Porzio O; IRCCS Ospedale Pediatrico Bambino Gesù, Unit of Medical Laboratory, Rome, Italy
J Clin Res Pediatr Endocrinol ; 13(3): 347-352, 2021 08 23.
Article en En | MEDLINE | ID: mdl-32840097
We describe a 46,XX girl with Denys-Drash syndrome, showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made. A 15 year-old girl was affected by neonatal nephrotic syndrome, progressing to end stage kidney failure. Hair loss and voice deepening were noted during puberty. Pelvic ultrasound and magnetic resonance imaging showed utero-tubaric agenesis, vaginal atresia and urogenital sinus, with inguinal gonads. Gonadotrophin and estradiol levels were normal, but testosterone was increased up to 285 ng/dL at Tanner stage 3. She underwent prophylactic gonadectomy. Histopathology reported fibrotic ovarian cortex containing numerous follicles in different maturation stages and rudimental remnants of Fallopian tubes. No features of gonadoblastoma were detected. Unexpectedly, testosterone levels were elevated four months after gonadectomy (157 ng/dL). Recent medical history revealed chronic daily comsumption of high dose biotin, as a therapeutic support for hair loss. Laboratory immunoassay instruments used streptavidin-biotin interaction to detect hormones and, in competitive immunoassays, high concentrations of biotin can result in false high results. Total testosterone, measured using liquid chromatography tandem mass spectrometry, was within reference intervals. Similar testosterone levels were detected on repeat immunoassay two weeks after biotin uptake interruption. Discordance between clinical presentation and biochemical results in patients taking biotin, should raise the suspicion of erroneous results. Improved communication among patients, health care providers, and laboratory professionals is required concerning the likelihood of biotin interference with immunoassays.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biotina / Suplementos Dietéticos / Síndrome de Denys-Drash Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: J Clin Res Pediatr Endocrinol Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Turquía
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biotina / Suplementos Dietéticos / Síndrome de Denys-Drash Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: J Clin Res Pediatr Endocrinol Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Turquía