Fertility in men with Klinefelter’s syndrome

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Fertility in men with Klinefelter’s syndrome (2022)
Ingrid Plotton, Lucie Renault, Marion Lapoirie, Damien Sanlaville, René Ecochard, Sandrine Giscard d’Estaing, Beatrice Cuzin, Frederique Dijoud, Bruno Salle, Hervé Lejeune


Patients with Klinefelter syndrome (KS), defined by a 47 XXY karyotype, were long considered infertile. Testicular sperm extraction (TESE) now allows them to access fatherhood. We will present the data of studies since the first experiment of TESE. Several factors influencing TESE outcomes were proposed in these different studies. Among them, clinical and hormonal parameters have been reported by a few studies, and age has been one of the most discussed prognostic factors of positive sperm retrieval rate. Data seems to show that TESE carried out before an age greater than 30 has a poorer prognosis for positive sperm retrieval. In a few studies performed on the younger patient, before 20 years, SRR was closed to result for 20 to 30-year-old patients. Offering a TESE before 16 years old does not improve the positive sperm extraction rate. In fact, the few studies carried out before the age of 16 were of poorer prognosis, most often linked to insufficient maturation of the residual gametes. In addition, androgen therapy, frequently prescribed in the case of Klinefelter syndrome, did not seem to show any effect on sperm retrieval but only a few studies were interested in the possible impact of this treatment. In conclusion, further studies are necessary to determine the interest of new markers to predict the chance of sperm retrieval, taking into account age, and hormonal therapy.

1. Introduction

Klinefelter syndrome (KS) prevalence is estimated at 1/500 to 1/700 newborn males. In 1942, H.F. Klinefelter et al. [1] described this syndrome as characterized by gynecomastia, small and firm testes, azoospermia, and elevation of serum FSH with functional Leydig cells. In 1959, P.A. Jacobs and J.A. Strong suggested the presence of an extra chromosome to be the cause of the syndrome [2]: Classical karyotype is 47, XXY. About 80% of Klinefelter syndromes are due to the congenital numerical chromosome aberration 47, XXY; the remaining 20% are cases with mosaicisms or with lineage carrying more extra X chromosomes and at least one Y chromosome (e.g. 47, XXY/46, XY, 47, XXY/45, X/46, XY, 48, XXXY, 49, XXXXY, 48, XXYY, mosaicism, or structurally abnormal X chromosomes)[3]. These last ones are also considered Klinefelter’s syndrome variants, although the clinical presentation may be quite different in some cases [4]

This karyotype is observed in 11% of azoospermic patients and 1–2% of infertile men [3]. Around 10% of cases were identified prenatally and 26% in childhood or adult life and 64% remain undiagnosed [5].

After reviewing the pathophysiology of the disorder of spermatogenesis in the case of Klinefelter syndrome, we will focus on the possibilities of fertility and then prognosis factors.

2. Pathogenesis of spermatogenesis failure

3. Fertility in Klinefelter syndrome?

4. Sperm retrieval rate and prognosis factors

5. Conventional TESE/micro-TESE?

6. Androgen therapy

7. Conclusion

For the last 20 years, several studies have shown that fertility in the case of Klinefelter syndrome could be considered in nearly 50% of cases. However, we observe variable results for the success of sperm retrieval. The cohort of prospectively included KS patients is rare.

Personal data in a prospective study (Fertipreserve study) of 159 KS confirmed this trend with a success of testicular sperm extraction in 45.4%.

Currently, few predictive factors are able to predict the success of sperm extraction. The increase in age seemed to be associated with less poor prognosis significantly after 35 years. On the other hand, a sample carried out before 16 years old does not improve the positive sperm extraction rate. Androgen therapy does not seem to impact sperm retrieval. Further studies are necessary to determine the interest of new markers to predict the chance of sperm retrieval, taking into account age, and hormonal therapy. The risk of spermatogenesis damage in the KS testis is important to appreciate as well as the psychological impact when trying to formulate fertility presentation to Klinefelter patients.


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Table 1 Studies were published since 2001 with more than 8 patients included (n: number of patients in the report). The sperm retrieval rate (SRR) is variable from 20 to 69%.
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