Children Born Using Ejaculated Sperm From Men With Klinefelter Syndrome. Is Sperm Production Associated With Testicular Volume?

BACKGROUND: A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. OBJECTIVE: To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate whether men with KS and ejaculated sperm differ from other men with KS. MATERIALS AND METHODS: This narrative review, based on a systematic literature search summarizes children born after conception using ejaculated sperm from men with KS. Additionally, we included three not previously published cases from Denmark. When available, data on paternal age, height, testicular volume and sperm count in addition to health, sex, karyotype, and birthweight of the children were extracted. RESULTS: Based on 15 studies and three additional cases from our center, this review includes 36 children fathered by 30 KS men (26 men with 47, XXY; 3 with 47, XXY/46, XY; 1 with unknown karyotype). Six healthy children were born following natural conception. Four had a normal 46, XY karyotype, and one had a normal 46, XX karyotype. Among the 30 children conceived via intracytoplasmic sperm injection (ICSI) using ejaculated sperm from men with KS, 19 were healthy girls, and 11 were healthy boys. Karyotypes were reported in 16 cases, and no sex chromosomal abnormalities were identified. The majority of men with KS had a non-mosaic 47, XXY karyotype and a low sperm count. Testicular volume in men with KS and ejaculated sperm seems to be larger than in men with KS but without ejaculated sperm. CONCLUSIONS: Children conceived using ejaculated sperm from men with KS appear to be healthy and with normal karyotypes. From the present data sperm production in men with KS might be associated with testicular volume, although the evidence remains limited.