Overcoming Klinefelter Syndrome with Expert Fertility Care. A Rare Diagnosis, A Remarkable Outcome
In 2013, Mr PS a 30-year-old man (name withheld for privacy) and his partner Mrs AS (28 years old) sought help from Dr. Hossam Elzeiny after facing one year of infertility. Two separate semen analyses had shown complete azoospermia (no sperm), despite normal semen volume. Before seeing Dr. Elzeiny, he had undergone two fine needle testicular biopsies at another clinic, both of which yielded no sperm. The couple was devastated and beginning to lose hope.
A Precise and Compassionate Diagnosis
Dr. Elzeiny’s meticulous approach began with a thorough clinical assessment. He found the patient had a small testicular volume of 4 ml bilaterally. A hormonal profile showed elevated FSH (36 IU/L) and low testosterone (6.9 nmol/L), raising suspicions of a genetic condition. Karyotype testing confirmed the diagnosis: 47,XXY Klinefelter Syndrome. Importantly, no Y chromosome microdeletions were detected.
“Klinefelter Syndrome, the most common chromosomal cause of male infertility, was previously seen as a problem that could never be overcome and was considered a barrier to biological fatherhood. But Dr. Elzeiny’s depth of knowledge, microsurgical expertise, and commitment to personalised care would soon change that.”
Innovative Treatment Plan and Coordinated IVF Cycle
To enhance the possibility of sperm production, Dr. Elzeiny prescribed a course of Anastrozole (1 mg/day for 3 months) to help rebalance the patient’s hormonal axis. Meanwhile, the couple prepared for IVF, with the female partner undergoing stimulation under Dr. Elzeiny’s care.
In 2014, a carefully coordinated IVF cycle was planned with microdissection testicular sperm extraction (microTESE) scheduled on the same day as egg collection — an advanced surgical technique requiring a skilled reproductive microsurgeon.
During the surgery, Dr. Elzeiny successfully retrieved viable sperm directly from testicular tissue — a remarkable result in a patient with non-obstructive azoospermia due to Klinefelter Syndrome.
Out of 10 oocytes collected, 5 fertilised, and 4 healthy embryos developed. Two embryos were transferred. The result ? A successful pregnancy and the birth of a healthy baby girl via vaginal delivery at 40 weeks + 1 day, weighing 4330g.
Hope Renewed: Second Child from Frozen Embryos
Three years later, in 2017, the couple returned to use their remaining frozen embryos. The first thaw cycle did not result in a pregnancy. But three months later, another single embryo transfer led to a second conception. Mrs AS was once again pregnant.
A 7-week scan confirmed a live intrauterine pregnancy with a fetal heart and normal growth. She went on to deliver a second healthy baby — a sister to their firstborn.
A Global Rarity, A Local Triumph
As Dr. Elzeiny noted in his medical correspondence, this outcome represents one of the few documented cases worldwide of a man with Klinefelter Syndrome fathering two biological children using his own sperm.
Why This Case Matters
This case showcases Dr. Hossam Elzeiny’s unrivalled skill in:
- Diagnosing and managing rare male infertility conditions like Klinefelter Syndrome
- Performing complex microsurgical sperm retrieval (microTESE), Fine needle biopsy is not recommended in this case.
- Coordinating same-day IVF and surgery to optimise results
- Applying compassionate, evidence-based care for both partners in the fertility journey
Dr. Elzeiny’s success with this highly complex case illustrates not only his surgical precision and scientific insight, but also his unwavering commitment to helping couples defy the odds.
Are You Facing Male Infertility or Azoospermia?
There is hope — and help. Whether you’ve been told you have Klinefelter Syndrome, zero sperm count, know that you don’t have to navigate it alone. Dr. Hossam Elzeiny is one of Australia’s most experienced fertility specialists and reproductive microsurgeons, offering world-class care tailored to even the most difficult cases.
Take the First Step Toward Parenthood
Make an appointment with Dr. Elzeiny today — and start your own journey toward the family you dream of having.
