[XX male: 3 case reports during childhood].
We report on three patients with the clinical condition known as "XX male", which is uncommon in the pediatric age group. Patients have a male phenotype (usually without ambiguous genitalia) and testes; however, the karyotype is 46,XX. The diagnosis is usually made in adult life due to infertility; it may also be done by the pediatrician when there is ambiguous genitalia or gynecomastia. The SRY gene (Sex-determining Region of the Y chromosome) is detected in most cases, thus explaining the origin of testicular development; however, it is absent in 20% of the cases, thus indicating that gonadal determination is a complex process which depends on the interaction of many genes and transcription factors. The finding of only 3 cases in two reference services in a 30-year period indicates the rarity of this disorder among intersex cases.
Damiani
Durval
D
Unidade de Endocrinologia Pediátrica, Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, SP. durvald@iconet.com.br
Guedes
Dulce Rondina
DR
Damiani
Daniel
D
Dichtchekenian
Vaê
V
Coelho Neto
José Rodrigues
JR
Maciel-Guerra
Andréa Trevas
AT
Guerra-Júnior
Gil
G
Mello
Maricilda Palandi de
MP
Setian
Nuvarte
N
D000293:Adolescent; D041321:Chromosomes, Human, X; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype