Document Detail

Familial ovarian dysgenesis in 46,XX females.
MedLine Citation:
PMID:  6779629     Owner:  NLM     Status:  MEDLINE    
Three phenotypic female sisters in a sibship of four sisters and one brother were found to have pure ovarian dysgenesis, which was confirmed by the finding of streak gonads at laparotomy in two of the three sisters who presented with amenorrhea and lack of secondary sexual characteristics. No evidence of any other congenital anomaly was found in any of these sisters. Pure gonadal dysgenesis syndrome distinguishes a group of women with primary gonadal failure with amenorrhea whose heights are over 152 cm and who are without either webbed necks or any of the other somatic anomalies that are characteristic of Turner's syndrome. Cytogenetic studies revealed a normal female (46,XX) karyotype in all the affected members. Endocrine studies indicated that the affected sisters had elevated FSH and LH values with decreased plasma estradiol and urinary estrogen determinations. This is the second report of a family with 46,XX karyotype that meets all the criteria for the pure gonadal dysgenesis syndrome. The multiple affected sibs suggests an autosomal recessive mode of inheritance.
D L Vesely; R H Bower; P O Kohler; F Char
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The American journal of the medical sciences     Volume:  280     ISSN:  0002-9629     ISO Abbreviation:  Am. J. Med. Sci.     Publication Date:    1980 Nov-Dec
Date Detail:
Created Date:  1981-03-24     Completed Date:  1981-03-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370506     Medline TA:  Am J Med Sci     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  157-66     Citation Subset:  AIM; IM    
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MeSH Terms
Amenorrhea / etiology
Follicle Stimulating Hormone / blood
Gonadal Dysgenesis / genetics*,  metabolism,  physiopathology
Luteinizing Hormone / blood
Ovary / physiopathology
Pituitary Gland / physiopathology
Reg. No./Substance:
9002-67-9/Luteinizing Hormone; 9002-68-0/Follicle Stimulating Hormone

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

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