True hermaphrodites in the southeastern region of Brazil: a different cytogenetic and gonadal profile.
Sex ambiguity may be due to several disorders of gonadal differentiation, including true hermaphroditism (TH), as well as male and female pseudohermaphroditism. Although TH is a rare cause of intersex in Europe and North America, in Africa it presents one of the highest frequencies. The 46,XX karyotype has been found in the majority of the reported patients (70.6%), and aberrations in the sex chromosomes have been observed in about 22% of the cases. The 46,XY karyotype has been described as less frequent. Herein we describe ten cases of TH which have been diagnosed over the last 7 years, six lateral TH, two unilateral TH, and two cases of ovotestes with absent contralateral gonad. From a total of 18 gonads analyzed, there were 8 testes, 6 ovaries and 4 ovotestes. Nine subjects had originally a male sex assignment, and in three cases this was reverted to female. Four cases had a 46,XY karyotype. Additional sex chromosome aberrations had been found in four different cases [two 46,XX/46,XY, one 45,X/47,XYY, one 46,X,del(Yq)]. A 46,XX karyotype was found in only two individuals, and both were SRY negative. Our preliminary data, especially on the constitution of chromosomes and gonads, indicate marked differences from those in the literature.
Guerra Júnior
G
G
Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), São Paulo, Brazil.
de Mello
M P
MP
Assumpção
J G
JG
Morcillo
A M
AM
Marini
S H
SH
Baptista
M T
MT
Paiva e Silva
R B
RB
Marqués-de-Faria
A P
AP
Maciel-Guerra
A T
AT
D000293:Adolescent; D001938:Brazil; D002454:Cell Differentiation / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010053:Ovary / Q000002:abnormalities*; D012189:Retrospective Studies; D013737:Testis / Q000002:abnormalities*