| Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies. | |
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MedLine Citation:
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PMID: 22281282 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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OBJECTIVE: The 45,X/46,XY and 45,X/47,XYY group of patients includes some of those previously diagnosed with 'mixed gonadal dysgenesis'. Our aim was to establish the clinical and gonadal spectrum, and early surgical management, of patients with chromosomal mosaicism presenting with genital anomalies. PATIENTS AND METHODS: We performed a retrospective review of patients with 45,X/46,XY or 45,X/47,XYY mosaicism presenting with genital ambiguity between 1988 and 2009. At least one gonadal biopsy or gonadectomy specimen was available for each patient. Gonadal histology was re-evaluated by a paediatric pathologist. RESULTS: Of 31 patients with 45,X/46,XY (n = 28) or 45,X/47,XYY (n = 3) mosaicism and genital anomalies, 19 (61%) were raised male. Histology of 46 gonads was available from patients who had undergone a gonadectomy or gonadal biopsy, at a median age of 9.5 months. 18 gonads were palpable at presentation, including 5 (28%) histologically unremarkable testes, 2 streak gonads, and 1 dysgenetic gonad with distinct areas of testicular and ovarian stroma but no oocytes. All intra-abdominal gonads were found to be dysgenetic testes (of which 2 were noted to have pre-malignant changes) or streaks, apart from 1 histologically unremarkable testis. 15 (48%) patients had other anomalies, most commonly cardiac and renal; 4 (13%) had a Turner phenotype. CONCLUSION: The anatomy and gonadal histology of 45,X/46,XY and 45,X/47,XYY individuals with genital ambiguity do not conform to a set pattern, and hence management of each patient should be individualized according to detailed anatomical and histological assessment. |
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Authors:
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M K Farrugia; N J Sebire; J C Achermann; A Eisawi; P G Duffy; I Mushtaq |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-1-24 |
Journal Detail:
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Title: Journal of pediatric urology Volume: - ISSN: 1873-4898 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-1-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101233150 Medline TA: J Pediatr Urol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Urology, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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