ACTA ENDOCRINOLOGICA (BUC)

Mixed gonadal dysgenesis and ovotesticular disorders of sex development, are rare conditions that occur sporadically,\r\nwith unknown prevalence. Clinical manifestation of this diseases is sexual ambiguity. The authors present a pediatric\r\ncase with sexual ambiguity and karyotype 45, X/46, XY, the child of a HIV-positive mother receiving multiple antiretroviral treatments for a period of 16 years.

Chromosomal aberrations can be generally classified in two main categories: structural abnormalities (such as translocations, deletions or duplications) and numerical changes or aneuploidy. Aneuploidies are considered the most frequent chromosomal defects occurring in humans and the leading cause of miscarriage and congenital birth defects. Here we present the case of an 8-year old girl with remarkable prenatal history, low birth weight and length associated with increased height in early childhood and developmental delay. On chromosomal analysis a rare form of aneuploidy involving the sex chromosomes has been found in all cells: 48, XXXX. Tetrasomy X (48,XXXX) is a sex chromosome aneuploidy condition in which females have two extra X chromosomes compared to the 46,XX karyotype in typical females. There is significant phenotypical variability for tetrasomy X syndrome and many cases escape detection therefore the prevalence for tetrasomy X is unknown. This disorder is commonly associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism, reminiscent of Down syndrome. Genetic counseling is recommended. Although no cure exists specifically for this condition, the treatment of the symptoms can be efficient. Individuals should undergo medical and psychological evaluations.