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Lookup NU author(s): Dr Christopher Wright, Dr Claire Jennings, Professor Timothy Cheetham
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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 © 2005 S. Karger AG.
Author(s): Velaga MR, Wright C, Crofton PM, Allen L, Jennings CE, Cheetham TD
Publication type: Article
Publication status: Published
Journal: Hormone Research
Year: 2005
Volume: 64
Issue: 1
Pages: 3-8
ISSN (print): 0301-0163
ISSN (electronic): 1663-2826
Publisher: S. Karger AG
URL: http://dx.doi.org/10.1159/000087287
DOI: 10.1159/000087287
PubMed id: 16088201
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