ISSN: 2689-8039
Authors: Husseini AA*
Introduction: This case study delves into the genetic underpinnings of prepubertal gynecomastia by conducting an exhaustive analysis of a rare 45,X[2]/46,X,+mar[28] karyotype. Enlargement of male breast tissue, known as Gynecomastia, is generally considered a natural occurrence during adolescence but requires comprehensive assessment in severe cases. Prepubertal gynecomastia is exceedingly uncommon, and the sparse literature results in a lack of comprehensive understanding regarding its causes and management. Case Presentation: This study focuses on a male child aged eight years and six months who presented with bilateral gynecomastia before reaching puberty and also had short stature. The analysis of the patient's karyotype unveiled an unusual chromosomal arrangement of 45,X[2]/46,X,+mar[28], with the extra marker chromosome stemming from the Y chromosome, revealing Yq microdeletions. The clinical evolution, chromosomal examination, and molecular discoveries concerning the patient are detailed, emphasizing the pivotal importance of karyotyping in instances of prepubertal gynecomastia. Conclusion: Karyotyping plays a pivotal role in identifying potential chromosomal anomalies contributing to prepubertal gynecomastia. Specifically, cases involving Yq deletion warrant vigilant monitoring, particularly concerning short stature.
Keywords: Prepubertal Gynecomastia; Short Stature; Karyotyping; Yq Microdeletions; 45,X/46,X,+Mar Karyotype
