Elias Gatos, M.D.
Surgeon Gynecologist – Obstetrician
Scientific Director emBIO Assisted Reproduction Unit

Klinefelter Syndrome: Rare case of pregnancy – one of a kind in Greece!

Birth of healthy triplet girls following IVF and Preimplantation Genetic Diagnosis/Screening in a man with Klinefelter’s syndrome

A rare exceptional case in the History of Medicine of triplets fathered by an infertile man with Klinefelter’s syndrome, resulted in the birth of three healthy newborn girls today, on Tuesday, August 3rd, at a downtown Athens maternity hospital by Elias Gatos, Obstetrician-Gynaecologist, an expert on IVF and endoscopic surgery, the Scientific Head of emBIO medical center, an Assisted Reproduction Unit. The triplet girls were delivered by C-section and weighed 1800, 1900, and 1650 gr, respectively.

This is a rare case since azoospermia or oligoasthenospermia are typical findings of the Klinefelter’s Syndrome (XXY trisomy) occurring in 1 in 1000 births.

As stated by Elias Gatos, Obstetrician-Gynaecologist, “the birth of these triplet girls is a rare case not only in Greece, but worldwide, given that people with Klinefelter’s syndrome have very few chances of becoming parents”. However, thanks to IVF and proper techniques applied –microfertilisation and Preimplantation Genetic Diagnosis/Screening- we achieved a pregnancy while eliminating the risk of chromosomal birth defects”.

The process followed at emBIO medical center, an assisted reproduction unit, was the following: First, -due to male azoospermia– Testicular Sperm Aspiration – TESA was performed and spermatozoa were obtained for fertilisation purposes. This collection was performed by an expert urologist on the same day as the egg collection performed on the female. This was followed by microfertilisation at the Unit’s biology lab using the ICSI (Intra-Cytoplasmic Sperm Injection) method. In particular, following the egg collection, microfertilisation was performed using special equipment, where one spermatozoon was placed in each egg. Then, Preimplantation Genetic Diagnosis/Screening (PGD/PGS) was carried out, during which a biopsy was performed in each foetus, and once a culture and analysis of genetic material (PCR) was complete, genetically healthy foetuses were selected and embryo transfer took place.

Preimplantation Genetic Diagnosis/Screening (PGD/PGS) is now considered an essential in every IVF performed in couples having a chromosomal anomaly. Embryos obtained through the IVF-ICSI-TESA process described above were thoroughly checked for chromosomal anomalies (Klinefelter’s syndrome etc) at the emBIO biology laboratory and only genetically healthy embryos were implanted in the uterus resulting in the birth of three healthy girls.

What is “Klinefelter’s syndrome?”

The Klinefelter’s syndrome is the result of a chromosomal anomaly in chromosome 23. It is the cause of disorders in both male and female organ producing hormones in subjects carrying the disorder, as well as mental retardation. Klinefelter’s syndrome was first described in 1942 by H. F. Klinefelter, and it was named after him. It is also called “seminiferous tubular dysgenesis”. Males with Klinefelter’s syndrome have one extra X chromosome in their genome. That is, whereas the normal ratio for males is one X chromosome and one Y chromosome, for these particular subjects, male and female genes are as follows: ΧΧΥ. The key effect of this gene disorder is infertility. These subjects are tall, have enlarged breasts (gynecomastia) and small-sized testicles not producing sperm. Their seminiferous tubules are not normal. Moreover, subjects having this disorder are often mentally retarded. The Klinefelter’s syndrome is associated with azoospermia almost at all cases. The extra Χ chromosome seems not to adversely impact seminiferous tubules before puberty; however, mass destruction of the seminiferous epithelium is gradually seen. There is no treatment for Klinefelter’s syndrome, although hormonal therapy may develop secondary genetic characteristics such as beard etc. The syndrome occurs quite often in the general population; it is estimated at one in approximately one thousand births (incidence 1:1000).


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