Assuntos
Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/genética , Deformidades Congênitas da Mão , Hipertelorismo/genética , Pênis/anormalidades , Adolescente , Adulto , Criança , Feminino , Triagem de Portadores Genéticos , Transtornos do Crescimento/genética , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , SíndromeRESUMO
A tall 15 1/2-year-old-girl with an xxx sex chromosome complement, absence of secondary sexual characteristics and histologically verified pure gonadal dysgenesis is described. In contrast to patients with an xxy sex chromosome configuration who--after puberty--are recognisable by typical somatic abnormalities, triple-x females generally show no physical anomalies. Speech and language problems can be features of the triple-x condition; ovarian dysfunction in triple-x females has been described only sporadically. Probably one patient is the second case described having this chromosomal aberration combined with pure gonadal dysgenesis. The presence of three x chromosomes (and thereby possibly extra growth determinants) could be the reason for the extra growth potential in these patients. This contrasts with the reduced growth in patients with the xo sex chromosome configuration who tend to remain small.
