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

Fertility and sterility, 2017-01, Vol.107 (1), p.74-82.e7 [Peer Reviewed Journal]

2016 ;Copyright © 2016. Published by Elsevier Inc. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2016.09.015 ;PMID: 27793385

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Title:
Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility
Author: Olesen, Inge Ahlmann, M.D., Ph.D ; Andersson, Anna-Maria, Ph.D ; Aksglaede, Lise, M.D., Ph.D ; Skakkebaek, Niels Erik, M.D., D.M.Sc ; Rajpert–de Meyts, Ewa, M.D., D.M.Sc ; Joergensen, Niels, M.D., Ph.D ; Juul, Anders, M.D., D.M.Sc
Subjects: Adult ; Biopsy ; Chromosome Aberrations ; chromosome abnormalities ; Cross-Sectional Studies ; Denmark ; DNA Mutational Analysis ; Fertility - genetics ; Genetic Predisposition to Disease ; Hormones - blood ; Humans ; Infertility, Male - diagnosis ; Infertility, Male - genetics ; Infertility, Male - pathology ; Infertility, Male - physiopathology ; Internal Medicine ; Karyotype ; Karyotyping ; Male ; Male infertility ; Middle Aged ; Mutation ; Obstetrics and Gynecology ; Phenotype ; Predictive Value of Tests ; Retrospective Studies ; Risk Factors ; Semen Analysis ; testicular cancer ; testicular dysgenesis syndrome (TDS) ; Testis - pathology ; Y-chromosome microdeletions ; Young Adult
Is Part Of: Fertility and sterility, 2017-01, Vol.107 (1), p.74-82.e7
Description: Objective To study the pathologic findings among men evaluated for infertility. Design A retrospective, single-center, cross-sectional study. Setting University hospital–based research center. Participant(s) We included data from 1,213 medical records from infertile men referred for diagnostic work-up from 2005 to 2009. Interventions(s) None. Main Outcome Measure(s) Health history, clinical findings, chromosome/genetic aberrations, semen quality, reproductive hormones. Result(s) 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. Conclusion(s) 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.
Publisher: United States: Elsevier Inc
Language: English
Identifier: ISSN: 0015-0282
EISSN: 1556-5653
DOI: 10.1016/j.fertnstert.2016.09.015
PMID: 27793385
Source: MEDLINE
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Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility

2016 ;Copyright © 2016. Published by Elsevier Inc. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2016.09.015 ;PMID: 27793385

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