A Sri Lankan child with 49,XXXXY syndrome.

Pentasomy 49,XXXXY is a rare sex chromosome disorder usually presenting with ambigous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. The incidence of the condition is estimated to be 1 in 85,000 male births. Previously, this condition was identified as a Klinefelter variant. The condition is suspected in a patient, by a combination of characteristic clinical findings, and the diagnosis is confirmed by chromosome culture and karyotyping. In the case we report here, the main presentation of ambiguous genitalia led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis.

Trastornos de la diferenciación sexual: presentación de un caso de genitales ambiguos y revisión del tema / Inconveniences of the sexual differentiation: presentation of a case of ambiguous genitals and review of the theme

Los trastornos de la diferenciación sexual constituyen un grupo complejo de entidades y síndromes. El término estados intersexuales hace referencia a aquellos recién nacidos que presentan genitales ambiguos, esto es, sin evidencia clara sobre sexo asignable. Su frecuencia en nuestro medio es relativamente escasa. Se presenta el caso de un recién nacido en el que, en el examen físico, presenta micropenisomía y escroto bífido. La fusión labioescrotal está alterada con rodetes separados que semejan labios mayores y una estructura que remeda un introito vaginal. En el estudio ultrasonográfico se descartó la presencia de útero y ovarios y se constató la presencia de testículos en canal inguinal. La cromatina sexual de células en interfase de la mucosa oral reveló la presencia de 0 de cuerpo Barr y el estudio cromosómico mostró un cariotipo masculino normal (46, XY), por lo que se interpreta el caso como un pseudohermafroditismo masculino. Se realiza una revisión de los trastornos de la diferenciación sexual.

Sexual differentiation disorders constitute a group of complex syndromes and entities. The term intersexual states makes reference to those newborns that present with ambiguos genitalia, that is, without any clear evidence of defined sex. Intersexuality may be classified as masculine and femenine pseudohermaphroditism and true hermaphroditism, which is caused by incomplete sexual differentiation in the male or virilization in the female. This disorder is relatively rare in our context, though knowledge increases more and more about it thanks to the development of molecular biology and the discovered involvement of genes in the normal sexual differentiation process. This article presented the case of a newborn whose dysmorphological exam at birth indicated positive findings in external genitalia such as micropenis and bifid scrotum. Labioscrotal fusion was upset with separated folds resembling labia majoris and a structure that seemed to be vaginal introitus. The ultrasonographic study eliminated the possibility of uterus and ovaria and showed the presence of testis in the inguinal canal. Sexual chromatin in interphase cells of the oral mucosa indicated 0 Barr corps and the chromosomal study showed normal male cariotype (46, XY), so this case was considered as male pseudohermaphroditism. Sexual differentiation disorders were reviewed.

Analysis of SRY gene in 8 cases of sex abnormality / 华中科技大学学报（医学）（英德文版）

In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.