Post Date December, 03 2023
The patient, a 28 year old male, came to the hospital for treatment after one year of infertility after marriage. The woman's menstrual cycle is normal. The sexual life of both spouses is normal. Physical examination shows that the patient is 165cm tall, with dense male secondary sexual characteristics such as beard, unclear laryngeal nodules, and normal external genitalia during reproductive organ examination. Endocrine examination results are normal. Routine semen examination shows no sperm. Cytogenetic examination: peripheral blood culture, G-banding, chromosome results: wife's karyotype is 46, XX; The patient's karyotype is 46, X, t (1; Y) (1qter p22:: Yq11 Yqter; Ypter Yq11:: 1p22-1pter).
The patient has a balanced translocation of Y chromosome and chromosome 1. It is rare for the largest chromosome to break and reconnect with the smallest chromosome. The patient has a strong physique, normal hormone level, but no sperm production, indicating that the Y chromosome is broken! The site of translocation may contain genes related to sperm production, leading to azoospermia. Research shows that structural abnormality of Y chromosome can lead to deletion, translocation, mutation and other changes of testicular decisive gene, mature gene and spermatogenesis and development gene on Y chromosome, thus affecting the development and differentiation of sperm to varying degrees, and ultimately leading to gonadal hypoplasia A series of clinical effects such as infertility "The key area of spermatogenesis and development is located in Yq11. In this case, the Y chromosome just breaks and translocates from q11, which may be one of the important reasons for azoospermia.
