Document Detail

Clinical and hormonal status of infants with nonmosaic XXY karyotype.
MedLine Citation:
PMID:  21429009     Owner:  NLM     Status:  MEDLINE    
AIM: To compare our recent findings in a cohort of 77 nonmosaic 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. All subjects from our cohort (73 prenatally detected subjects, five 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 luteinizing hormone. In reported studies, inhibin B levels were within normal range, anti-Mullerian hormone levels were normal or high and follicle-stimulating hormone (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.
Najiba Lahlou; Ilene Fennoy; Judith L Ross; Claire Bouvattier; Marc Roger
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review     Date:  2011-04-20
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  100     ISSN:  1651-2227     ISO Abbreviation:  Acta Paediatr.     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-04-27     Completed Date:  2011-08-09     Revised Date:  2013-07-11    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  Norway    
Other Details:
Languages:  eng     Pagination:  824-9     Citation Subset:  IM    
Copyright Information:
© 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.
Department of Hormonology and Metabolic Disorders, Hopital Cochin, APHP, Paris-Descartes, University, France.
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MeSH Terms
Anti-Mullerian Hormone / blood
Biological Markers / blood
Case-Control Studies
Follicle Stimulating Hormone / blood
Gonadal Hormones / blood*
Infant, Newborn
Insulin / blood
Klinefelter Syndrome / blood*,  diagnosis*,  genetics
Grant Support
Reg. No./Substance:
0/Biological Markers; 0/Gonadal Hormones; 0/Insulin; 0/Leydig insulin-like protein; 0/Proteins; 80497-65-0/Anti-Mullerian Hormone; 9002-68-0/Follicle Stimulating Hormone

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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