Evidence map›Paper›PMID 33060256›Full record

ArticlePediatrics2020

XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing.

Ahlee Kim, Katherine Abell, Jodie Johnson, Stephanie Cizek, Lesley Breech, Michelle M Ernst, Robert J Hopkin, Kimberly Kennedy, Jerzy Stanek, Andrew C Strine and 1 more

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.1field-weighted citation impact, top 54% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 2 countries.

Ahlee KimDivisions of Endocrinology.
Katherine AbellHuman Genetics.
Jodie JohnsonHuman Genetics.
Stephanie CizekPediatric and Adolescent Gynecology.
Lesley BreechPediatric and Adolescent Gynecology.
Michelle M ErnstDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio.
Robert J HopkinHuman Genetics.
Kimberly KennedyPediatric Urology, and.
Jerzy StanekDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio.
Andrew C StrineDepartment of Pediatrics, University of Cincinnati, Cincinnati, Ohio.
Meilan M RutterDivisions of Endocrinology, meilan.rutter@cchmc.org.
University of Cincinnati · USInstitute of Human Genetics · PLAdult and Pediatric Dermatology · USOffice of Adolescent Health · US

Funding

Disorders/Differences of Sex Development (DSD) - Translational Research NetworkR01HD093450 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SANDBERG, DAVID ERIC, VILAIN, ERIC J. · 2018 to 2022
$3.9M
NICHD NIH HHS R01 HD093450
6 · The paper itself

Abstract

We report a 16-year-old phenotypic female with 46,XY complete gonadal dysgenesis and metastatic dysgerminoma, unexpectedly discovered through direct-to-consumer (DTC) commercial genetic testing. This case underscores the importance of timely interdisciplinary care, including psychosocial intervention and consideration of gonadectomy, to optimize outcomes for individuals with differences of sex development. Her unique presentation highlights the implications of DTC genetic testing in a new diagnostic era and informs general pediatricians as well as specialists of nongenetic services about the value, capabilities, and limitations of DTC testing.

Indexed as

Direct-to-Consumer AdvertisingAdolescentBiomarkers, TumorDysgerminomaFemaleGender IdentityGenes, sryGenetic TestingGonadal Dysgenesis, 46,XYGonadoblastomaHumansLung NeoplasmsOvarian NeoplasmsPhenotypeBiomarkers, Tumor

Identifiers

PMID33060256
PMCPMC7875095
OpenAlexW3092852436

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.