Genetic Insights into Prepubertal Gynecomastia: A Comprehensive Analysis of a Rare 45,X[2]/ 46,X, + mar[28] Karyotype

Abstract

Abstract Introduction This case report provides genetic insights into prepubertal gynecomastia through the comprehensive analysis of a rare 45,X[2]/46,X,+mar[28] karyotype. Gynecomastia, characterized by the enlargement of male breast, is typically physiological in pubertal cases but necessitates thorough evaluation in severe instances. Prepubertal gynecomastia is exceptionally rare, and the limited literature results in a deficit of etiological and management data. Case report The case involves an eight years and six months old male child with prepubertal bilateral gynecomastia and short stature, presenting a karyotype of 45,X[2]/46,X,+mar[28], with the additional marker chromosome originating from the Y chromosome, revealing Yq microdeletions. The patient's clinical progression, chromosomal analysis, and molecular findings are detailed, emphasizing the importance of karyotyping in prepubertal gynecomastia cases. Conclusion In prepubertal gynecomastia cases, karyotyping is crucial to identify potential chromosomal abnormalities contributing to the condition. Particularly, cases with Yq deletion should be closely monitored, especially for short stature.