Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility

Pathologic findings could explain male-factor infertility in two-thirds of infertile men. Notably, Leydig cell insufficiency was frequently detected in otherwise idiopathic infertile men.

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Volume 107, Issue 1, Pages 74-82


Inge Ahlmann Olesen, M.D., Ph.D., Anna-Maria Andersson, Ph.D., Lise Aksglaede, M.D., Ph.D., Niels Erik Skakkebaek, M.D., D.M.Sc., Ewa Rajpert–de Meyts, M.D., D.M.Sc., Niels Joergensen, M.D., Ph.D., Anders Juul, M.D., D.M.Sc.



To study the pathologic findings among men evaluated for infertility.


A retrospective, single-center, cross-sectional study.


University hospital–based research center.


We included data from 1,213 medical records from infertile men referred for diagnostic work-up from 2005 to 2009.



Main Outcome Measure(s)

Health history, clinical findings, chromosome/genetic aberrations, semen quality, reproductive hormones.


In total, 64.4% of the infertile men had one or more reproductive disorders or factors influencing fertility, leaving 35.6% diagnosed as idiopathic infertile. In 244 patients (20%), including seven cases of testicular cancer and/or germ cell neoplasia in situ, a pathologic finding was first detected during diagnostic work-up. Two hundred four patients (16.8%) had a history of cryptorchidism and 154 (12.7%) of varicocele (grade 2 and 3). Thirty-three patients had chromosomal abnormalities, including 16 with sex chromosome abnormalities (11 with 47,XXY). Y-chromosome microdeletions were detected in 65 patients (5.4%). One hundred thirty-three had azoospermia, of which 58 had testicular biopsy findings (Sertoli cell–only syndrome: n = 23; spermatogenic arrest: n = 7; impaired spermatogenesis and atrophy: n = 28). Additionally, in idiopathic infertile men and infertile men with additional symptoms of testicular dysgenesis syndrome, 22.5% presented with a degree of Leydig cell insufficiency, with the highest frequency (33.1%) among patients with sperm concentration <5 million/mL.


We report pathologic findings that could explain the male-factor infertility in two-thirds of infertile men referred to our center. Thus, male infertility may be a sign of an underlying disease that warrants attention.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. 


Go to the profile of Mary Samplaski
about 5 years ago
This article provides useful information that we can pass along to our fertility patients, and also reinforces the need for a full hormonal workup. Perhaps in the future LH testing (in addition to FSH and T) will be in the diagnostic panel recommendations.