X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early ...

This review contains two parts. Part 1: definition of the problem, description of basic concepts related to normal sexual differentiation, diagnostic orientation for the clinician, and comments on the problem of sex assignment from the personal, social and legal point of views. Part 2 (to be published in the next issue of the Endocrinología Pediatrica On Line Site): description of the most comm...

In recent years there in an increasing awareness among general public regarding ambiguous genitalia in new born babies. The confused parents often post pone the problem thinking that the problem solves on itself as the child grows. However, now-a-days with greater input from the media with newspaper articles and medical talks and chart shows on small screens, there is an increase in the number ...

Sex determination in infants and children with ambiguous genitalia usually necessitates time-consuming and costly karyotyping .We have evaluated a simple,rapid and reliable method of postnatal sex determination by amplification of X and Y specific microsatellite markers DXS6797 and SRY respectively by polymerase chain reaction(PCR). Three probands M78, M59 and M61 with ambiguous genitalia were ...

Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...