Journal Mobile Options
Table of Contents
Vol. 64, No. 1, 2005
Issue release date: September 2005
Horm Res 2005;64:3–8
(DOI:10.1159/000087287)

Macroorchidism in Two Unrelated Prepubertal Boys with a Normal FSH Receptor

Velaga M.R. · Wright C. · Crofton P.M. · Allen L. · Jennings C.E. · Cheetham T.D.
aInstitute of Human Genetics, School of Clinical Medical Sciences, University of Newcastle, Newcastle upon Tyne; cDepartment of Paediatric Biochemistry, Royal Hospital for Sick Children, Edinburgh, and Departments of bPathology and dPaediatrics, Royal Victoria Infirmary, Newcastle upon Tyne, UK

Individual Users: Register with Karger Login Information

Please create your User ID & Password





Contact Information











I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in

Abstract

Background: Macroorchidism in prepuberty is an uncommon condition which we hypothesised might reflect constitutive activation of the FSH receptor (FSHR). Patients and Methods: Patient 1 was found to have macroorchidism (15 ml testicular volume) at the time of orchidopexy when 3.7 years of age. A gonadal biopsy was obtained at the time of surgery. Patient 2 developed macroorchidism (5 ml) when 8.8 years old. Despite a testicular volume >4 ml, morning testosterone levels were unrecordable with no measurable gonadotrophin production in either patient. Patient 2 had prepubertal gonadotrophin levels 3 years later despite a testicular volume that was 8 ml bilaterally. Inhibin B was measured and the FSHR sequenced in both patients. Results: Inhibin B levels were age and pubertal stage appropriate. Gonadal biopsy (patient 1) demonstrated areas of Sertoli cell hyperplasia. Sequence analysis of all 10 exons of the FSHR was normal. There was significant, presumed gonadotrophin-dependent testosterone production in both boys by 15 years of age. Conclusions: The cause of prepubertal macroorchidism in our patients is unclear but the pronounced difference in phenotype suggests that there may be more than one underlying mechanism. This mechanism was not constitutive activation of a mutated FSHR.



Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

References

  1. Dunkel L, Alfthan H, Stenman UH, Selstam G, Rosberg S, Albertsson-Wikland K: Developmental changes in 24-hour profiles of lutenizing hormone and follicle-stimulating hormone from prepuberty to midstages of puberty in boys. J Clin Endocrinol Metab 1992;74:890–897.
  2. Albertsson-Wikland K, Rosberg S, Lannering B, Dunkel L, Selstam G, Norjavaara E: Twenty-four-hour profiles of luteinizing hormone, follicle-stimulating hormone, testosterone, and estradiol levels: a semilongitudinal study throughout puberty in healthy boys. J Clin Endocrinol Metab 1997;82:541–549.
  3. Gromoll Z, Simoni M, Nieschlag E: An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab 1996;84:1367–1370.

    External Resources

  4. De la Hunt MN, Wagget J: Prepubertal idiopathic macro-orchidism: an unusual cause of maldescent. Pediatr Surg 1993;8:173–174.
  5. www.ensembl.org
  6. Groome NP, Illingworth PJ, O’Brien M, Pai R, Rodger FE, Mather JP, McNeilly AS: Measurement of dimeric inhibin B throughout the human menstrual cycle. J Clin Endocrinol Metab 1996;81:1401–1405.
  7. Crofton PM, Evans AE, Groome NP, Taylor MR, Holland CV, Kelnar CJ: Inhibin B in boys from birth to adulthood: relationship with age, pubertal stage, FSH and testosterone. Clin Endocrinol 2002;56:215–221.
  8. Trainer TD: Testis and excretory duct system; in Sternberg SS (ed.): Histology for Pathologists. Philadelphia, Lippincott, 1997, p 1019.
  9. Husain AN, Selby DM, Dehner LP: The male reproductive system including intersex disorders; in Stocker JT, Dehner LP (eds): Pediatric Pathology. Philadelphia, Lippincott, 2001, pp 939–991.
  10. Kamp GA, Waelkens JJ, de Muinck Keizer-Schrama SM, Delemarre-Van de Waal HA, Verhoeven-Wind L, Zwinderman AH, Wit JM: High dose growth hormone treatment induces acceleration of skeletal maturation and an earlier onset of puberty in children with idiopathic short stature. Arch Dis Child 2002;87:215–220.
  11. Hindmarsh PC, Brook CG: Final height of short normal children treated with growth hormone. Lancet 1996;348:13–16.
  12. Franks S: Growth hormone and ovarian function. Ballières Clin Endocrinol Metab 1998;12:331–340.
  13. Boonstra V, van Pareren Y, Mulder P, Hokken-Koelega A: Puberty in growth hormone-treated children born small for gestational age. J Clin Endocrinol Metab 2003;88:5753–5758.
  14. Bertelloni S, Baroncelli GI, Viacava P, Massimetti M, Simi P, Saggese G: Can growth hormone treatment in boys without growth hormone deficiency impair testicular function? J Pediatr 1999;135:367–370.
  15. Castro-Magana M, Angulo M, Canas A, Sharp A, Fuentes B: Hypothalamic-pituitary gonadal axis in boys with primary hypothyroidism and macroorchidism. J Pediatr 1988;112:397–402.
  16. Aittomaki K, Dieguez Lucena JLD, Pakarinen P, Sistonen PJ, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, De la Chapelle A: Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995;82:959–968.
  17. Vasseur C, Rodien P, Beau I, Desroches A, Gerard C, de Poncheville L, Chaplot S, Savagner F, Croue A, Mathieu E, Lahlou N, Descamps P, Misrahi M: A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome. N Engl J Med 2003;349:753–759.
  18. Anderson RA, Sharpe RM: Regulation of inhibin production in the human male and its clinical applications. Int J Androl 2000;23:136–144.
  19. Andersson AM, Anders J, Petersen JH, Müller J, Groome NP, Skakkebæk NE: Serum inhibin B in healthy pubertal and adolescent boys: relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels. J Clin Endocrinol Metab 1997;82:3976–3981.
  20. Berensztein E, Saraco N, Belgorosky A, Rivarola MA: Secretion of inhibin B by human prepubertal testicular cells in culture. Eur J Endocrinol 2000;142:481–485.
  21. Christiansen P, Andersson AM, Skakkebæk NE, Juul A: Serum inhibin B, FSH, LH and testosterone levels before and after human chorionic gonadotropin stimulation in prepubertal boys with cryptorchidism. Eur J Endocrinol 2002;147:95–101.
  22. Crofton PM, Evans AEM, Wallace AM, Groome NP, Kelnar CJH: Nocturnal secretory dynamics of inhibin B and testosterone in pre- and peripubertal boys. J Clin Endocrinol Metab 2004;89:867–874.
  23. Andersson AM, Müller J, Skakkebæk NE: Different roles of prepubertal and postpubertal germ cells and Sertoli cells in the regulation of serum inhibin B levels. J Clin Endocrinol Metab 1998;83:4451–4458.
  24. Pierik FH, Vreeburg JTM, Stijnen T, De Jong FH, Weber RFA: Serum inhibin B as a marker of spermatogenesis. J Clin Endocrinol Metab 1998;83:3110–3114.


Pay-per-View Options
Direct payment This item at the regular price: USD 38.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 26.50