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

End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype.

American journal of diseases of children (1960) - 1 Oct 1992

Bailey W A, Zwingman T A, Reznik V M, Griswold W R, Mendoza S A, Jones K L, Freidenberg G R

Abstract excerpt

OBJECTIVE: To determine the cause of absent sexual development in a 17-year-old girl with end-stage renal disease. DESIGN: Case study. PARTICIPANT: Seventeen-year-old girl with end-stage renal failure. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: The patient had phenotypically normal external female genitalia, müllerian duct hypoplasia, and no ovaries. Her serum gonadotropin levels were in the castrate range...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Karyotyping

Share to Molecular Sequence Data

Share to Phenotype

Share to Polymerase Chain Reaction

Share to Syndrome

Source

Identifiers

PMID: 1329488
DOI: 10.1001/archpedi.1992.02160220104033

Genes

SRY
ZFY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype.PMID 1329488Read ↗

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.Semantic proximity Read ↗

Frasier syndrome, a potential cause of end-stage renal failure in childhood.Semantic proximity Read ↗

Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome.Semantic proximity Read ↗

A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.Semantic proximity Read ↗

Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome.Semantic proximity Read ↗

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.Semantic proximity Read ↗

CLINICAL AND MOLECULAR ANALYSIS OF XX SEX REVERSED PATIENTSSemantic proximity Read ↗

Development in a 46 XX boy with positive SRY gene.Semantic proximity Read ↗

[Genotypic sex and phenotypic sex: clinical, biochemical and molecular aspects in a patient with male hypogonadism and 46XX-45XO karyotype].Semantic proximity Read ↗

Candidate genes in complete and partial XY sex reversal: mutation analysis of SRY, SRY-related genes and FTZ-F1.Semantic proximity Read ↗

Abnormalities of human sex determination.Semantic proximity Read ↗

Case report: Teenage girl with proteinuria and amenorrhea.Semantic proximity Read ↗

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