Document Detail

Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.
MedLine Citation:
PMID:  8291549     Owner:  NLM     Status:  MEDLINE    
We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia (only sib 1) or omphalocele (only sib 2). This combination of malformations did not fit into any of the previously described syndromes. For this syndrome we suggest the acronym PAGOD ([hypoplasia of the] pulmo, and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia). The occurrence of a basically similar set of malformations in 2 unlike sex is interpreted as evidence for autosomal recessive inheritance. The different gonosomal status excludes the Y chromosome as a responsible factor. The peculiar finding of a 46,XX sex chromosome constitution combined with agonadism and an intact urogenitral tract emphasizes the concept of secondary regression of Wolffian and Müllerian structures. The associated malformations of mesodermal structures can be interpreted as midline defects. We suggest that, from the developmental field perspective, secondary regression of midline structures including the gonadal anlage explains the pathogenesis reasonably well.
I Kennerknecht; W Sorgo; R Oberhoffer; W M Teller; T Mattfeldt; G Negri; W Vogel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  47     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Dec 
Date Detail:
Created Date:  1994-02-24     Completed Date:  1994-02-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1166-70     Citation Subset:  IM    
Abteilung Klinische Genetik, Universität Ulm, Germany.
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MeSH Terms
Abnormalities, Multiple / diagnosis,  genetics*
Diagnosis, Differential
Genes, Recessive*
Genitalia, Female / abnormalities*
Heart Defects, Congenital / genetics
Hernia, Umbilical / genetics
Lung / abnormalities
Pulmonary Artery / abnormalities
X Chromosome
Y Chromosome

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