Papers presented at the fall 2020 Pediatric Urologic Oncology Work Group of the Societies of Pediatric Urology meetingNeonatal Serum Electrolyte and Proteinuria Screening on 46,XY Ambiguous Genitalia Patients May Allow Early Diagnosis of Denys-Drash Syndrome: A Case Report

Angelena Edwards; Niccolo M Passoni; Rebecca Collins; Smitha Vidi; Jyothsna Gattineni; Linda A Baker

doi:10.1016/j.urology.2020.11.035

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Papers presented at the fall 2020 Pediatric Urologic Oncology Work Group of the Societies of Pediatric Urology meetingNeonatal Serum Electrolyte and Proteinuria Screening on 46,XY Ambiguous Genitalia Patients May Allow Early Diagnosis of Denys-Drash Syndrome: A Case Report

Journal article

Peer reviewed

Papers presented at the fall 2020 Pediatric Urologic Oncology Work Group of the Societies of Pediatric Urology meetingNeonatal Serum Electrolyte and Proteinuria Screening on 46,XY Ambiguous Genitalia Patients May Allow Early Diagnosis of Denys-Drash Syndrome: A Case Report

Angelena Edwards, Niccolo M Passoni, Rebecca Collins, Smitha Vidi, Jyothsna Gattineni and Linda A Baker

Urology (Ridgewood, N.J.), Vol.153, pp.312-316

07/2021

DOI: 10.1016/j.urology.2020.11.035

PMID: 33279611

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Abstract

A term infant with prenatally noted ambiguous genitalia and nonpalpable gonads presented with life-threatening hyponatremia, hypertension, acidosis, and anuric renal failure requiring peritoneal dialysis at age 3 months.Sequencing confirmed 46, XY Denys-Drash syndrome (DDS) due to heterozygous Wilms tumor-1 exon 8 mutation encoding p.His445Arg. Renal US identified bilateral multifocal renal masses at age 8 months. Bilateral retroperitoneal nephrectomies found bilateral nephroblastomatosis without Wilms' tumor avoiding chemotherapy, followed by bilateral laparoscopic orchiopexies. We suggest monthly screening of 46, XY DSD cases for DDS by evaluating for proteinuria and electrolyte disarray starting at diagnosis of DSD to prevent acute life-threatening renal failure presentation.

Congresses as Topic

Denys-Drash Syndrome - blood

Denys-Drash Syndrome - complications

Denys-Drash Syndrome - diagnosis

Denys-Drash Syndrome - genetics

Disorders of Sex Development - blood

Disorders of Sex Development - complications

Disorders of Sex Development - diagnosis

Disorders of Sex Development - genetics

Early Diagnosis

Electrolytes - blood

Female

Humans

Infant

Medical Oncology

Pediatrics

Proteinuria - complications

Proteinuria - diagnosis

Societies, Medical

Urology

Writing

Details

Title: Subtitle: Papers presented at the fall 2020 Pediatric Urologic Oncology Work Group of the Societies of Pediatric Urology meetingNeonatal Serum Electrolyte and Proteinuria Screening on 46,XY Ambiguous Genitalia Patients May Allow Early Diagnosis of Denys-Drash Syndrome: A Case Report
Creators: Angelena Edwards - University of Iowa
Niccolo M Passoni - The University of Texas Southwestern Medical Center
Rebecca Collins - Department of Pathology, University of Texas Southwestern, Dallas, TX
Smitha Vidi - The University of Texas Southwestern Medical Center
Jyothsna Gattineni - The University of Texas Southwestern Medical Center
Linda A Baker - The University of Texas Southwestern Medical Center
Resource Type: Journal article
Publication Details: Urology (Ridgewood, N.J.), Vol.153, pp.312-316
DOI: 10.1016/j.urology.2020.11.035
PMID: 33279611
ISSN: 0090-4295
eISSN: 1527-9995
Language: English
Date published: 07/2021
Academic Unit: Stead Family Department of Pediatrics; Urology
Record Identifier: 9984320071902771

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