Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysis

The 47,XYY syndrome, or Jacobs syndrome, is a chromosomal disorder affecting approximately one in 1000 male births. While often asymptomatic or mildly expressed, it is associated with various physical, cognitive and behavioral features. Early studies erroneously linked the condition to aggressive be...

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Main Authors: Rossella Cannarella, Andrea Pedano, Michele Compagnone, Sandro La Vignera, Rosita A Condorelli, Aldo E Calogero
Format: Article
Language:English
Published: Bioscientifica 2025-03-01
Series:Endocrine Connections
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Online Access:https://ec.bioscientifica.com/view/journals/ec/14/4/EC-24-0697.xml
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author Rossella Cannarella
Andrea Pedano
Michele Compagnone
Sandro La Vignera
Rosita A Condorelli
Aldo E Calogero
author_facet Rossella Cannarella
Andrea Pedano
Michele Compagnone
Sandro La Vignera
Rosita A Condorelli
Aldo E Calogero
author_sort Rossella Cannarella
collection DOAJ
description The 47,XYY syndrome, or Jacobs syndrome, is a chromosomal disorder affecting approximately one in 1000 male births. While often asymptomatic or mildly expressed, it is associated with various physical, cognitive and behavioral features. Early studies erroneously linked the condition to aggressive behavior and elevated testosterone levels, largely based on incarcerated populations. Recent evidence contradicts this, showing testosterone levels in 47,XYY individuals are typically normal or lower than in 46,XY males. This systematic review and meta-analysis of 362 patients examine hormonal, testicular and fertility outcomes in 47,XYY syndrome. Findings reveal significantly lower testosterone levels and elevated luteinizing hormone and follicle-stimulating hormone, indicating impaired gonadal function. While testicular volumes are often normal, many patients exhibit reduced size and a notable proportion experience oligozoospermia or azoospermia. These outcomes highlight the need for counseling regarding infertility and hormonal imbalances. This review dispels the myth of 47,XYY as a ‘super-male syndrome’, emphasizing the complexity of hormonal, testicular and psychological factors. It underscores the importance of early diagnosis and a multidisciplinary approach to address endocrine and reproductive health. Regular monitoring for hypogonadism and consideration of assisted reproductive technologies are recommended to support affected individuals.
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spelling doaj-art-aeec0522ff394e90a040510e28f1d8d02025-08-20T02:05:20ZengBioscientificaEndocrine Connections2049-36142025-03-0114410.1530/EC-24-06971Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysisRossella Cannarella0Andrea Pedano1Michele Compagnone2Sandro La Vignera3Rosita A Condorelli4Aldo E Calogero5Department of Clinical and Experimental Medicine, University of Catania, Catania, ItalyDepartment of Clinical and Experimental Medicine, University of Catania, Catania, ItalyDepartment of Clinical and Experimental Medicine, University of Catania, Catania, ItalyDepartment of Clinical and Experimental Medicine, University of Catania, Catania, ItalyDepartment of Clinical and Experimental Medicine, University of Catania, Catania, ItalyDepartment of Clinical and Experimental Medicine, University of Catania, Catania, ItalyThe 47,XYY syndrome, or Jacobs syndrome, is a chromosomal disorder affecting approximately one in 1000 male births. While often asymptomatic or mildly expressed, it is associated with various physical, cognitive and behavioral features. Early studies erroneously linked the condition to aggressive behavior and elevated testosterone levels, largely based on incarcerated populations. Recent evidence contradicts this, showing testosterone levels in 47,XYY individuals are typically normal or lower than in 46,XY males. This systematic review and meta-analysis of 362 patients examine hormonal, testicular and fertility outcomes in 47,XYY syndrome. Findings reveal significantly lower testosterone levels and elevated luteinizing hormone and follicle-stimulating hormone, indicating impaired gonadal function. While testicular volumes are often normal, many patients exhibit reduced size and a notable proportion experience oligozoospermia or azoospermia. These outcomes highlight the need for counseling regarding infertility and hormonal imbalances. This review dispels the myth of 47,XYY as a ‘super-male syndrome’, emphasizing the complexity of hormonal, testicular and psychological factors. It underscores the importance of early diagnosis and a multidisciplinary approach to address endocrine and reproductive health. Regular monitoring for hypogonadism and consideration of assisted reproductive technologies are recommended to support affected individuals.https://ec.bioscientifica.com/view/journals/ec/14/4/EC-24-0697.xml47,xxyjacobs’ syndrometestosteronehypogonadism
spellingShingle Rossella Cannarella
Andrea Pedano
Michele Compagnone
Sandro La Vignera
Rosita A Condorelli
Aldo E Calogero
Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysis
Endocrine Connections
47,xxy
jacobs’ syndrome
testosterone
hypogonadism
title Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysis
title_full Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysis
title_fullStr Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysis
title_full_unstemmed Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysis
title_short Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysis
title_sort gonadal function in patients with 47 xyy syndrome a systematic review and meta analysis
topic 47,xxy
jacobs’ syndrome
testosterone
hypogonadism
url https://ec.bioscientifica.com/view/journals/ec/14/4/EC-24-0697.xml
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