Akademik Veri Yönetim Sistemi
Annals of Experimental and Molecular Biology, cilt.6, 2024 (Hakemli Dergi)
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. 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. : 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.