Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis

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Abstract

Specific factors underlying successful surgical sperm retrieval rates (SRR) or pregnancy rates (PR) after testicular sperm extraction (TESE) in adult patients with Klinefelter syndrome (KS) have not been completely clarified.

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Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study.

Anders Bojesen, Svend Juul, Claus Gravholt (2003)

The objective of this study was to describe the prevalence of Klinefelter syndrome (KS) prenatally and postnatally in Denmark and determine the influence of maternal age. All chromosomal examinations in Denmark are registered in the Danish Cytogenetic Central Registry. Individuals with KS diagnosed prenatally or postnatally were extracted from the registry with information about age at the time of diagnosis and mother's age. In the period 1970-2000, 76,526 prenatal examinations on male fetuses resulted in the diagnosis of 163 fetuses with KS karyotype, corresponding to a prevalence of 213 per 100,000 male fetuses. Standardization according to maternal age resulted in a prevalence of 153 per 100,000 males. Postnatally, 696 males of 2,480,858 live born were diagnosed with KS, corresponding to a prevalence among adult men of approximately 40 per 100,000. Less than 10% of the expected number was diagnosed before puberty. Advanced maternal age had a significant impact on the prevalence. KS is severely underdiagnosed in Denmark. Only approximately one fourth of adult males with KS are diagnosed. There is a marked delay in diagnosis of the syndrome. A delay in treatment with testosterone may lead to decreased muscle and bone mass with subsequent risk of osteoporosis.

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Klinefelter's syndrome.

Fabio Lanfranco, Axel Kamischke, Michael Zitzmann … (2015)

Klinefelter's syndrome is the most common genetic cause of human male infertility, but many cases remain undiagnosed because of substantial variation in clinical presentation and insufficient professional awareness of the syndrome itself. Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences. Testosterone replacement corrects symptoms of androgen deficiency but has no positive effect on infertility. However, nowadays patients with Klinefelter's syndrome, including the non-mosaic type, need no longer be considered irrevocably infertile, because intracytoplasmic sperm injection offers an opportunity for procreation even when there are no spermatozoa in the ejaculate. In a substantial number of azoospermic patients, spermatozoa can be extracted from testicular biopsy samples, and pregnancies and livebirths have been achieved. The frequency of sex chromosomal hyperploidy and autosomal aneuploidies is higher in spermatozoa from patients with Klinefelter's syndrome than in those from normal men. Thus, chromosomal errors might in some cases be transmitted to the offspring of men with this syndrome. The genetic implications of the fertilisation procedures, including pretransfer or prenatal genetic assessment, must be explained to patients and their partners.

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Successful fertility treatment for Klinefelter's syndrome.

Ranjith Ramasamy, Joseph A Ricci, Gianpiero D. Palermo … (2009)

We examined preoperative factors that could predict successful microdissection testicular sperm extraction in men with azoospermia and nonmosaic Klinefelter's syndrome. We also analyzed the influence of preoperative hormonal therapy on the sperm retrieval rate. A total of 91 microdissection testicular sperm extraction attempts were done in 68 men with nonmosaic Klinefelter's syndrome. Men with serum testosterone less than 300 ng/dl received medical therapy with aromatase inhibitors, clomiphene or human chorionic gonadotropin before microdissection testicular sperm extraction. Preoperative factors of patient age and endocrinological data were compared in those in whom the procedure was and was not successful. The sperm retrieval rate was the main outcome. Clinical pregnancy (pregnancy with heartbeat) and the live birth rate were also calculated. Testicular spermatozoa were successfully retrieved in 45 men (66%), representing 62 (68%) attempts. Increasing male age was associated with a trend toward a lower sperm retrieval rate (p = 0.05). The various types of preoperative hormonal therapies did not have different sperm retrieval rates but men with normal baseline testosterone had the best sperm retrieval rate of 86%. Patients who required medical therapy and responded to that treatment with a resultant testosterone of 250 ng/dl or higher had a higher sperm retrieval rate than men in whom posttreatment testosterone was less than 250 ng/dl (77% vs 55%). For in vitro fertilization attempts in which sperm were retrieved the clinical pregnancy and live birth rates were 57% and 45%, respectively. Microdissection testicular sperm extraction is an effective sperm retrieval technique in men with Klinefelter's syndrome. Men with hypogonadism who respond to medical therapy may have a better chance of sperm retrieval.

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Journal

Title: Human Reproduction Update

Publisher: Oxford University Press (OUP)

ISSN (Print): 1355-4786

ISSN (Electronic): 1460-2369

Publication date Created: May 2017

Publication date: May 2017

Publication date (Print): May 01 2017

Publication date (Electronic): April 04 2017

Volume: 23

Issue: 3

Pages: 265-275

Affiliations

[1 ] Endocrinology Unit, Medical Department, Endocrinology Unit, Azienda Usl Bologna Maggiore-Bellaria Hospital, Via Altura 3, 40139 Bologna, Italy

[2 ] Endocrinology Unit, IRCCS, Humanitas Research Hospital, Rozzano, Via Manzoni 56, 20089 Milan, Italy

[3 ] Department of Medical Sciences, Division of Endocrinology, Diabetology and Metabolism, University of Torino, Corso Dogliotti 14, 10126 Turin, Italy

[4 ] Department of Medicine, Andrology and Reproductive Medicine Unit, University of Padova, Via Giustiniani 2, 35100 Padova, Italy

[5 ] Sexual Medicine and Andrology Unit, Department of Experimental and Clinical Biomedical Sciences, Sexual Medicine and Andrology Unit, University of Florence, Largo Brambilla 3, 50134 Florence, Italy

[6 ] Department of Systems Medicine, Tor Vergata University of Rome, Via Montpellier 1, 00166 Rome, Italy

[7 ] Department of Experimental Medicine, Sapienza University of Rome, Viale Regina Elena 324, 00161 Rome, Italy

[8 ] Department of Cardiothoracic and Respiratory Sciences, Endocrine Unit, Second University of Naples, Via Pansini 5, 80131 Naples, Italy

[9 ] Department of Life, Health and Environmental Sciences, University of L'Aquila, Via Vetoio, 67100 L'Aquila, Italy

Article

DOI: 10.1093/humupd/dmx008

PubMed ID: 28379559

SO-VID: 64f50ffb-c3e3-43f4-b93e-035384a6018d

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Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis

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Most cited references 57

Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study.

Klinefelter's syndrome.

Successful fertility treatment for Klinefelter's syndrome.

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