Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Pediatrics - 1 Nov 2020

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Biomarkers, Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gender Identity

Share to Genes, sry

Share to Genetic Testing

Share to Gonadal Dysgenesis, 46,XY

Share to Lung Neoplasms

Share to Ovarian Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 33060256
DOI: 10.1542/peds.2019-3302
PMCID: PMC7875095

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing.PMID 33060256Read ↗

State of the art review in gonadal dysgenesis: challenges in diagnosis and managementSemantic proximity Read ↗

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex developmentSemantic proximity Read ↗

Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre.Semantic proximity Read ↗

Disorders of sex development: advances in genetic diagnosis and challenges in managementSemantic proximity Read ↗

Genomic technologies and the diagnosis of 46, XY differences of sex developmentSemantic proximity Read ↗

Establishing a Molecular Genetic Diagnosis in Children with Differences of Sex Development: A Clinical Approach.Semantic proximity Read ↗

Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?Semantic proximity Read ↗

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.Semantic proximity Read ↗

The current state of diagnostic genetics for conditions affecting sex developmentSemantic proximity Read ↗

Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis.Semantic proximity Read ↗

Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome materialSemantic proximity Read ↗

Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric PracticeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.