Document Detail


46,XY gonadal dysgenesis associated with congenital nephrotic syndrome and sepsis.
MedLine Citation:
PMID:  10603151     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The occurrence of nephrosis in the first 3 months of life is rare and is termed 'congenital nephrotic syndrome.' The congenital nephrotic syndrome is a group of heterogeneous diseases with a clinical course that differs markedly from the childhood nephrotic syndrome. The coexistence of a congenital nephrotic syndrome and gonadal dysgenesis in a 46,XY karyotype with normal female external genitalia is extremely rare. Frequent severe infections are often seen in the Finnish type, but sepsis leading to death is rare in the neonatal onset of gonadal dysgenesis. This report describes an unusual case of complete XY gonadal dysgenesis in a 46,XY female neonate with the congenital nephrotic syndrome and overwhelming sepsis.
Authors:
J N Sheu; J H Chen
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  13     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  1999 Nov 
Date Detail:
Created Date:  2000-02-08     Completed Date:  2000-02-08     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  927-9     Citation Subset:  IM    
Affiliation:
Division of Pediatric Nephrology, Department of Pediatrics, Chung Shan Medical and Dental College Hospital, No.23, Section 1, Taichung Kang Road, Taichung, Taiwan 40334, Republic of China.
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MeSH Terms
Descriptor/Qualifier:
Fatal Outcome
Female
Gonadal Dysgenesis, 46,XY / complications*
Humans
Infant, Newborn
Karyotyping
Nephrotic Syndrome / complications*,  congenital*
Sepsis / complications*

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