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

doi:10.1210/jc.2012-1388

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Article

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

The Journal of clinical endocrinology and metabolism - 1 Aug 2012

Lindhardt Johansen Marie, Hagen Casper P, Rajpert-De Meyts Ewa, Kjærgaard Susanne, Petersen Bodil L, Skakkebæk Niels E, Main Katharina M, Juul Anders

Abstract excerpt

CONTEXT: Most previous studies of 45,X/46,XY mosaicism are case reports or have described single aspects of the disease. OBJECTIVE: The objective was to provide longitudinal data of patients with 45,X/46,XY mosaicism. DESIGN: This was a retrospective, longitudinal study conducted from June 1990 to January 2012. SETTING: The study took place at a tertiary pediatric and andrological referral center. PATIENTS OR...

Topics

Adolescent
Body Height
Child
Child, Preschool
Female
Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, Mixed
Growth Disorders
Human Growth Hormone
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Karyotyping

Longitudinal Studies

Male

Mosaicism

Phenotype

Reproduction

Retrospective Studies

Source

Open in PubMed

Identifiers

PMID: 22605431
DOI: 10.1210/jc.2012-1388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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