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The male reproductive system in classic galactosemia: cryptorchidism and low semen volume

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Journal of Inherited Metabolic Disease

Abstract

Previous studies examining reproductive parameters in men with galactosemia have inconsistently demonstrated abnormalities. We hypothesized that men with galactosemia may demonstrate evidence of reproductive dysfunction. Pubertal history, physical examination, hormone levels and semen analyses were examined in 26 males with galactosemia and compared to those in 46 controls. The prevalence of cryptorchidism was higher in men with galactosemia than in the general population [11.6 % vs. 1.0 % (95%CI: 0.75–1.26; p < 0.001)]. Testosterone (461 ± 125 vs. 532 ± 133 ng%; p = 0.04), inhibin B (144 ± 66 vs. 183 ± 52 pg/mL; p = 0.002) and sperm concentration (46 ± 36 vs. 112 ± 75 × 106 spermatozoa/mL; p = 0.01) were lower and SHBG was higher (40.7 ± 21.5 vs 26.7 ± 14.6; p = 0.002) in men with galactosemia compared to controls. Semen volume was below normal in seven out of 12 men with galactosemia. Men with galactosemia have a higher than expected prevalence of cryptorchidism and low semen volumes. The subtle decrease in testosterone and inhibin B levels and sperm count may indicate mild defects in Sertoli and Leydig cell function, but does not point towards severe infertility causing reproductive impairment. Follow-up studies are needed to further determine the clinical consequences of these abnormalities.

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Acknowledgements

We would like to thank Dr. Harvey Levy and Dr. Louis J. Elsas for their assistance with the physical examinations.

Details of funding

These studies were supported by the Dutch Galactosemia Association (GVN), Parents of Galactosemic Children Association (PGCA) and the Clinical Translational Study Unit (CTSU) at Children’s Hospital Boston. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsor

Conflict of interest

None.

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Authors and Affiliations

  1. Department of Clinical Genetics, Maastricht University Medical Center, Postbus 5800, 6202 AZ, Maastricht, The Netherlands

    Cynthia S. Gubbels

  2. Reproductive Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA

    Corrine K. Welt

  3. Department of Obstetrics and Gynaecology and Center for Reproductive Medicine, Maastricht University Medical Center, Maastricht, The Netherlands

    John C. M. Dumoulin

  4. Department of Radiology, Maastricht University Medical Center, Maastricht, The Netherlands

    Simon G. F. Robben

  5. Divisions of Endocrinology and Adolescent Medicine, Hasbro Children’s Hospital and Brown University, Providence, RI, USA

    Catherine M. Gordon

  6. Children’s Hospital Boston and Harvard Medical School, Boston, USA

    Catherine M. Gordon

  7. GROW: School for Oncology and Developmental Biology and Department of Obstetrics and Gynaecology, Maastricht University Medical Center, Maastricht, The Netherlands

    Gerard A. J. Dunselman

  8. Department of Pediatrics and Laboratory Genetic Metabolic Disease, Maastricht University Medical Center, Maastricht, The Netherlands

    M. Estela Rubio-Gozalbo

  9. The Manton Center for Orphan Disease Research, Division of Genetics, Children’s Hospital Boston, Harvard Medical School, Boston, USA

    Gerard T. Berry

Authors
  1. Cynthia S. Gubbels
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  2. Corrine K. Welt
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  3. John C. M. Dumoulin
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  4. Simon G. F. Robben
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  5. Catherine M. Gordon
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  6. Gerard A. J. Dunselman
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  7. M. Estela Rubio-Gozalbo
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  8. Gerard T. Berry
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Corresponding author

Correspondence to Cynthia S. Gubbels.

Additional information

Communicated by: Frits Wijburg

Cynthia S. Gubbels, Corrine K. Welt, M. Estela Rubio-Gozalbo and Gerard T. Berry contributed equally.

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Gubbels, C.S., Welt, C.K., Dumoulin, J.C.M. et al. The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. J Inherit Metab Dis 36, 779–786 (2013). https://doi.org/10.1007/s10545-012-9539-1

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  • DOI: https://doi.org/10.1007/s10545-012-9539-1

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