Document Detail

Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism.
MedLine Citation:
PMID:  8677114     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Bone marrow monosomy 7 is an uncommon disorder of the pluripotent stem cells that leads to frequent childhood infections and leukemia. Primary adrenal hypoplasia occurs very rarely and is incompatible with life. Male pseudohermaphroditism results from inadequate androgen secretion or inappropriate androgen action. We report a case of monosomy 7, adrenal hypoplasia, and male pseudohermaphroditism. CASE: An infant was born with sexual ambiguity and bilateral inguinal masses. Bone marrow karyotype was 45, XY,-7. Serum testosterone level was low normal. The infant died on the fourth day of life. Autopsy revealed severely hypoplastic adrenal glands, inguinal testes, and a vaginal pouch. CONCLUSION: Monosomy 7 and male sexual ambiguity are reported in association with primary adrenal hypoplasia of the cytomegalic (X-linked) type.
S Q Le; W H Kutteh
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  87     ISSN:  0029-7844     ISO Abbreviation:  Obstet Gynecol     Publication Date:  1996 May 
Date Detail:
Created Date:  1996-08-15     Completed Date:  1996-08-15     Revised Date:  2009-10-26    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  854-6     Citation Subset:  AIM; IM    
Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas, USA.
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MeSH Terms
Adrenal Glands / abnormalities*
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosomes, Human, Pair 7*
Infant, Newborn
Linkage (Genetics)
Pseudohermaphroditism / genetics*
X Chromosome

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

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