| Clinical and hormonal status of infants with non-mosaic XXY karyotype. | |
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MedLine Citation:
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PMID: 21429009 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Aim: To compare our recent findings in a cohort of 77 non-mosaic XXY infants <2 years of age with clinical and biological features already reported.. Results: The majority of reported XXY neonates had normal external genitalia. Only undescended testes and/or micropenis were identified reasons for referral. Delayed ambulation and speech skills were also indications for postnatally karyotyping l. All subjects from our cohort (73 prenatally detected subjects, 5 postnatal diagnoses) had height and weight within the normal range, and were not dysmorphic. Insulin-like-peptide-3 and testosterone secretion by Leydig cells appeared normally sensitive to LH. In reported studies, inhibin B levels were within normal range, AMH levels were normal or high and FSH levels were significantly higher than control values, data consistent with a relative resistance to FSH. Conclusion: Early detection of Klinefelter syndrome is desirable for prospectively monitoring the apparition of developmental problems and the progressive decline in the tubular function of the testis, with the hope of designing future conservative interventions before germ cell degeneration is completed. |
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Authors:
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Najiba Lahlou; Ilene Fennoy; Judith L Ross; Claire Bouvattier; Marc Roger |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-23 |
Journal Detail:
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Title: Acta paediatrica (Oslo, Norway : 1992) Volume: - ISSN: 1651-2227 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9205968 Medline TA: Acta Paediatr Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Acta Paediatrica © 2011 Foundation Acta Paediatrica. |
Affiliation:
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Department of Hormonology and Metabolic Disorders, Hopital Cochin, APHP, Paris-Descartes University, Paris, France Department of Pediatrics, Division of Pediatric Endocrinology, Columbia University, New York, NY Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, & duPont Hospital for Children, Wilmington, DE Department of Paediatric Endocrinology, Hopital Saint Vincent de Paul, APHP, Paris, France Institute for Endocrine and Metabolic Research, Hopital Saint Vincent de Paul, APHP, Paris, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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