Endocrine Abstracts

A 29-year-old gentleman known to the pediatric endocrinologist for non-mosaic Klinefelter’s (XXY) syndrome. The diagnosis was made opportunistically when a karyotype was organized following his presentation at age of 4 years with delayed developmental milestone. He went through puberty spontaneously and was transitioned to adult endocrinologist in September 2005. At the time he did not have symptom of hypogonadism but did have elevated gonadotropins in keeping with the diagnosis. The following few years he was diagnosed with Ulcerative colitis and dysfibrinogenaemia causing recurrent thromboembolic events. In 2014 was referred back to the endocrinologist at the time his main issues were a desire for increased muscle bulk and his attention was turning to fertility as he was in a stable relationship. Given the fact he requires indefinite anticoagulation pursuing fertility options by mean of testicular micro dissection was not straightforward. He was referred to another unit for consideration of other treatment options and exploration of the psychological aspects of infertility. Fine needle aspiration to the testis (testicular mapping) including its risk and benefit were discussed in detail with the patient. His female partner has a child of her own; this inevitably implicates any future NHS funding. This case highlights the complexity of fertility management options in a patient with Klinefelter.