Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome

  • F. Sciarra
  • M. Pelloni
  • F. Faja
  • F. Pallotti
  • G. Martino
  • A. F. Radicioni
  • A. Lenzi
  • F. Lombardo
  • D. PaoliEmail author
Original Article



The aim of this study was to study the incidence of Y chromosome microdeletions in a Caucasian population of Klinefelter syndrome (KS) patients and to investigate the possible association between Y chromosome microdeletions and KS.

Materials and methods

We conducted a retrospective study on 118 KS patients, 429 patients with non-obstructive azoospermia (NOA), and 155 normozoospermic men. Eight of the 118 KS patients had undergone testicular sperm extraction (TESE). All patients underwent semen examination and Y chromosome microdeletions evaluated by PCR, using specific sequence tagged site (STS) primer sets, which spanned the azoospermia factor AZFa, AZFb, and AZFc regions of the Y chromosome.


Semen analysis of the KS group revealed: 1 patient with oligozoospermia, 1 with severe oligoasthenoteratozoospermia, 2 with cryptozoospermia, and 114 with azoospermia. Eight of the 114 azoospermic KS patients underwent TESE, and spermatozoa were recovered from three of these, all of whom had non-mosaic karyotype 47, XXY. 10.7% of the NOA patients presented AZF microdeletions. In 429 cases with NOA, 8 cases had AZFa + b + c deletion, 6 cases had AZF b + c deletion, 4 cases had AZFa microdeletion, 8 cases had AZFb microdeletion, and 20 cases had AZFc microdeletion. Just one KS patient (0.8%) presented microdeletion in the AZFc region.


The percentage of microdeletions in KS patients was lower than in NOA patients, suggesting that AZF microdeletions and KS do not have a causal relationship and that Y chromosome microdeletions are not a genetic factor linked to KS.


Klinefelter syndrome Non-obstructive azoospermia Y chromosome microdeletions 



The authors wish to thank Marie-Hélène Hayles for her assistance in the English translation of the manuscript.

Author contributions

DP, AFR, and FL: conception and design of the study; MP, FS, FF, and GM: acquisition of data; FP, DP: analysis and interpretation of data; FS and MP: drafting the article; AL, FL, and DP: revising it critically for important intellectual content and final approval of the version to be submitted.


This work was supported by a Grant from the Italian Ministry of Education and Research (MIUR-PRIN 2015- 2015XCR88M-006) and “Sapienza” University of Rome, Faculty of Medicine.

Compliance with ethical standards

Conflict of interest

The authors have no conflicts of interest.

Ethical approval

All procedures performed in this study involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. The study was approved by the Sapienza University of Rome—Policlinico Umberto I Ethics Committee.

Informed consent

All participants signed informed consent.


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Copyright information

© Italian Society of Endocrinology (SIE) 2018

Authors and Affiliations

  • F. Sciarra
    • 1
  • M. Pelloni
    • 1
  • F. Faja
    • 1
  • F. Pallotti
    • 1
  • G. Martino
    • 2
  • A. F. Radicioni
    • 3
  • A. Lenzi
    • 1
  • F. Lombardo
    • 1
  • D. Paoli
    • 1
    Email author
  1. 1.Laboratory of Seminology-Sperm Bank “Loredana Gandini”, Department of Experimental Medicine“Sapienza” University of RomeRomeItaly
  2. 2.Department of Surgical Sciences “R. Paolucci”“Sapienza” University of RomeRomeItaly
  3. 3.Hormone Laboratory, Department of Experimental Medicine, Medical Pathophysiology Section“Sapienza” University of RomeRomeItaly

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