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I read with interest the article by Selice et al. (1), in which84 patients with Klinefelter syndrome (47, XXY) were eval-uated with seminal analysis. As a result, 8.3% patientshad sperm in the ejaculate, although criptozoospermiawas noticed. The authors concluded that men with Kline-felter syndrome are not always sterile. This is indeed thecase. Some men with non-mosaic 47,XXY produce asmall number of sperm, allowing for the use of assistedreproductive techniques with intracytoplasmic sperm in-sertion (ICSI) to achieve pregnancy (2). There have beenvery few cases of naturally conceived offspring of provenpaternity (3, 4). Here we also reported a subject withKlinefelter syndrome, in whom paternity was confirmedby DNA-fingerprinting analysis.A 36-yr-old woman was referred to our center for pre-na-tal diagnosis at her 17 gestational weeks. She had suf-fered from infertility for 4 yr. Her husband was diagnosedas azoospermia, the result of Klinefelter syndrome. Abouta half year before, the husband began to receive tradi-tional Chinese medicine therapy for his no sperm pro-duction. The couple had normal sexual relations and thewife became pregnant. The 34-yr-old husband was theninvited for a clinical evaluation. He was 1.75 m tall andweighed 65 kg, with a boyish-looking face with a pauci-ty of facial hair, which prompted speculation about pos-sible hypogonadism. Both testes were small (measuring2 cm by 2 cm) with firm consistency. Hypogonadism wasconfirmed by laboratory testing, with free testosterone0.31 nmol/l, and total testosterone of 8.0 nmol/l. Thiswas clarified as hypergonadotrophic hypogonadism byFSH level of 27.6 mIU/ml and LH level of 11.4 mIU/ml.Chromosomal karyotype revealed 47, XXY pattern aftera total of 100 metaphases analyzed. The husband refuseda semen analysis.Pre-natal diagnosis was performed by amniocentesis dur-ing the 18 weeks of gestation. Twenty milliliters of am-

niotic fluid were collected; 15 ml of the sample were usedfor the establishment of long-term cultures for conven-tional cytogenetic analysis, and the remaining 5 ml wereused to obtain DNA extraction for DNA fingerprinting.Chromosome testing revealed a normal male fetus (46,XY). DNA zygosity was studied from samples of both par-ents and fetus using 15 microsatellite markers (CSF1PO,D7S820, D8S1179, D21S11, D2S1338, D3S1358,D13S317, D16S539, TH01, D18S51, D19S433, TPOX,vWA, D5S818, and FGA). A complete match was ob-served between non-maternal fetal bands and one of thetwo paternal alleles, which means that there is a 99.9%probability of paternity.We report another case of fertility in a man with a non-mosaic 47, XXY karyotype in lymphocytes. One hypoth-esis for fertility in Klinefelter syndrome is that some menhave a mosaic (46,XY/47,XXY) karyotype; it is possiblethat fertile 47,XXY males who do not have mosaicism inleukocytes actually have a normal 46,XY cell line in theirtestes which would not be detected by a blood karyotypeanalysis. Since fertility is occasionally possible without re-productive assistance in Klinefelter syndrome, these menshould not assume they are infertile based only on ablood karyotype analysis.

D.Z. LiPrenatal Diagnostic Center, Guangzhou Maternal and

Neonatal Hospital, Guangzhou Women and Children’sMedical Center, Guangzhou Medical College, Guangzhou,

Guangdong, China

REFERENCES1. Selice R, Di Mambro A, Garolla A, et al. Spermatogenesis in

Klinefelter syndrome. J Endocrinol Invest 2010, 33: 789-93.2. Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic

Klinefelter syndrome men be labelled as infertile in 2009? HumReprod 2010, 25: 588-97.

3. Laron Z, Dickerman Z, Zamir R, Galatzer A. Paternity in Klinefelter'ssyndrome - a case report. Arch Androl 1982, 8: 149-51.

4. Terzoli G, Lalatta F, Lobbiani A, Simoni G, Colucci G. Fertility in a47,XXY patient: assessment of biological paternity by deoxyri-bonucleic acid fingerprinting. Fertil Steril 1992, 58: 821-2.Accepted April 21, 2011.

Paternity in Klinefelter syndrome – Another case report

J. Endocrinol. Invest. 34: 570, 2011

©2011, Editrice Kurtis

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