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Article

46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review

1 Nov 2024

Abstract excerpt

Background: , located at Xp21, is a gene expressed in the developing adrenals, gonads, hypothalamus, and pituitary gland. Duplication of this area causes dosage sensitive male-to-female sex reversal and involves multisystem abnormalities. The heterogeneity in clinical phenotypes is attributed to variations in the size of the duplicated segments. Herein, we present a case with 46,XY disorders of sex development...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Hypothalamic control of reproductive hormones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39649651
DOI: 10.21037/tp-24-327

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