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

Inge Ahlmann Olesen; Anna-Maria Andersson; Lise Aksglaede; Niels Erik Skakkebaek; Ewa Rajpert-De Meyts; Niels Jørgensen; Anders Juul

doi:10.1016/j.fertnstert.2016.09.015

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

Inge Ahlmann Olesen, Anna-Maria Andersson, Lise Aksglaede, Niels Erik Skakkebaek, Ewa Rajpert-De Meyts, Niels Jørgensen, Anders Juul

Department of Clinical Medicine

35 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Fertility and Sterility
Volume	107
Issue number	1
Pages (from-to)	74-82.e7
ISSN	0015-0282
DOIs	https://doi.org/10.1016/j.fertnstert.2016.09.015
Publication status	Published - 1 Jan 2017

Keywords

Journal Article

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.fertnstert.2016.09.015

http://www.fertstert.org/article/S0015028216628352/pdf

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

abstract = "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.",

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AU - Skakkebaek, Niels Erik

AU - Rajpert-De Meyts, Ewa

AU - Jørgensen, Niels

AU - Juul, Anders

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AB - 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.

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SN - 1546-2501

VL - 107

SP - 74-82.e7

JO - Sexuality, Reproduction and Menopause

JF - Sexuality, Reproduction and Menopause

IS - 1

ER -

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

Abstract

Keywords

UN SDGs

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