True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 16, Issue 4, 2003, Pages 575-580

  Maier, Esther M ^a   Leitner, C ^b   Lohrs U ^a   Kuhnle, Ursula ^a,c  

^a UNIVERSITY OF MUNICH   (Germany)

^b GOETHE UNIVERSITY   (Germany)

^c Center for Child/Adolescent Health   (Germany)

Author keywords

Ambiguous genitalia; Ovotestis; SRY gene mutation; True hermaphroditism; XY karyotype

Indexed keywords

ISOLEUCINE; METHIONINE; TRANSCRIPTION FACTOR;

AMBIGUITY; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; FEMINIZATION; GENE CONTROL; GENE LOCUS; GONADAL DYSGENESIS; GONADECTOMY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KARYOTYPE 46,XY; MALE; MEDICAL DOCUMENTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OVARY DEVELOPMENT; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SEQUENCE ANALYSIS; SRY GENE; TESTIS DEVELOPMENT; TISSUE DIFFERENTIATION; TRUE HERMAPHRODITISM; Y CHROMOSOME; CONGENITAL MALFORMATION; FAMILY HEALTH; GENETICS; GENITAL SYSTEM; HERMAPHRODITISM; OVARY; PATHOLOGY; PEDIGREE; TESTIS; X CHROMOSOME;

CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; FAMILY HEALTH; FEMALE; GENES, SRY; GENITALIA; HERMAPHRODITISM; HUMANS; MALE; OVARY; PEDIGREE; POINT MUTATION; TESTIS;

EID: 0037928765     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2003.16.4.575     Document Type: Article

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