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

Area of Science:

• Reproductive Medicine
• Genetics
• Pediatrics

Background:

• Klinefelter syndrome (KS) is a genetic condition affecting males, typically diagnosed by a 47,XXY karyotype.
• While testicular sperm retrieval has led to successful pregnancies in men with KS, conception using ejaculated sperm is less common.
• This review focuses on the outcomes of children conceived using ejaculated sperm from men with KS.

Purpose of the Study:

• To systematically review and analyze all reported cases of children conceived using ejaculated sperm from men with KS.
• To assess the health status and karyotypes of these children.
• To identify potential differences between men with KS who produce ejaculated sperm and those who do not.

Main Methods:

• A comprehensive literature search was conducted to identify relevant studies.
• Data from 15 published studies and three unpublished cases were included.
• Information extracted included paternal characteristics and detailed health and karyotype data of the offspring.

Main Results:

• The review encompassed 36 children fathered by 30 men with KS.
• Six children were conceived naturally, with normal karyotypes in most cases.
• Thirty children conceived via intracytoplasmic sperm injection (ICSI) using ejaculated sperm were healthy, with no identified sex chromosomal abnormalities.
• Men with KS producing ejaculated sperm often had non-mosaic 47,XXY karyotypes, low sperm counts, and potentially larger testicular volumes compared to peers without ejaculated sperm.

Conclusions:

• Children conceived using ejaculated sperm from men with KS demonstrate healthy development and normal karyotypes.
• The findings suggest a possible association between sperm production in men with KS and testicular volume, warranting further investigation.