Genetic heterogeneity in true hermaphrodites. A report of two cases.
True hermaphrodites are identified from the presence of ambiguous genitalia with both ovarian and testicular tissue. Two cases presented below had a 46,XX chromosome pattern, cryptorchidism and undescended testes. Both cases showed an absence of secondary sexual characteristics and presence of bilateral breasts and a uterus. The gonads in case 1 were an ovotestis and testis (left side) and in case 2 were an ovary and testis (right side). Case 1 was analyzed for a sex-determining region on the Y chromosome (SRY) and was negative. Phenotypic, gonadal and molecular studies suggest that 46,XX true hermaphroditism is a genetically heterogeneous condition.
Kucheria
K
K
Department of Anatomy, All India Institute of Medical Sciences, New Delhi.
Mohapatra
I
I
Taneja
N
N
Gupta
D K
DK
Ammini
A C
AC
D000293:Adolescent; D000328:Adult; D003456:Cryptorchidism / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D012734:Disorders of Sex Development / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D018740:Genetic Heterogeneity; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D010641:Phenotype