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

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

European journal of endocrinology - 1 Sept 2018

Dumeige Laurence, Chatelais Livie, Bouvattier Claire, De Kerdanet Marc, Hyon Capucine, Esteva Blandine, Samara-Boustani Dinane, Zenaty Delphine, Nicolino Marc, Baron Sabine, Metz-Blond Chantal, Naud-Saudreau Catherine, Dupuis Clémentine, Léger Juliane, Siffroi Jean-Pierre, Donadille Bruno, Christin-Maitre Sophie, Carel Jean-Claude, Coutant Regis, Martinerie Laetitia

Abstract excerpt

OBJECTIVE: Few studies of patients with a 45,X/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X/46,XY boys born with normal or minor abnormalities of external genitalia, notably in terms of growth and pubertal development. METHODS: Retrospective longitudinal study of 40 patients followed between 1982 and 2017 in France....

Read the complete abstract on PubMed

Topics

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

Share to Azoospermia
Share to Body Height

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

Share to Disorder of Sex Development, 46,XY

Share to Genitalia

Share to Growth Disorders

Share to Monosomy

Share to Puberty

Share to Sex Chromosome Aberrations

Source

Identifiers

PMID: 29973376
DOI: 10.1530/EJE-18-0309

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

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?PMID 29973376Read ↗

45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study.Semantic proximity Read ↗

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys.Semantic proximity Read ↗

45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.Semantic proximity Read ↗

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism.Semantic proximity Read ↗

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study.Semantic proximity Read ↗

Clinical aspects of 49 infertile males with 45,X/46,XY mosaicism karyotype: A case series.Semantic proximity Read ↗

47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management.Semantic proximity Read ↗

Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature reviewSemantic proximity Read ↗

Children with 45,X/46,XY Karyotype from Birth to Adult HeightSemantic 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 ↗

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex developmentSemantic proximity Read ↗

A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance.Semantic proximity Read ↗

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