The approach to a neonate with a possible prenatal diagnosis of androgen insensitivity syndrome.

The diagnosis of androgen insensitivity syndrome (AIS) can now be made prenatally. We present a patient for whom the diagnosis of AIS was highly suspected prenatally, but the parents preferred to deny it. The clinical findings and the diagnostic evaluation after delivery are presented. A brief discussion of the syndrome, as well as the implications of possible prenatal diagnosis and how to approach it, are provided. Full multidisciplinary diagnostic work-up immediately after delivery, as well as awareness of possible prenatal diagnosis, is the responsibility of the primary care provider for the newborn with suspected AIS.

Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance.

BACKGROUND: The mild errors or morphogenesis (MEMs) are well known and accepted markers of alterations in embryonic development with predictive value in identification of major malformations, specific genetic syndromes, metabolic and psychiatric disease and childhood malignancy. OBJECTIVE: The goal of this study was to assess the contribution of auricular MEMs as part of total MEMs in an effort to study the factors influencing the different potential informative value of different types of MEMs and their variability with perinatal factors. METHOD: Three thousand one hundred and seven consecutive born neonates were screened for auricular and non-auricular MEMs, inregistered concomitantly with major malformations and postural defects. The study was accomplished by our specially designed computerized program in a relatively large nonhomogeneous ethnic population, in the metropolitan area of Haifa, Israel. RESULTS: The general prevalence of auricular MEMs was 43.1%; the most frequent pathogenetic type was the postural one. Significantly higher rates of auricular MEMs were associated with male sex, small- and large-for-gestational age, IVF pregnancy, triplet pregnancy, maternal diabetes and parental consanguinity. CONCLUSION: We conclude that the presence, number, and association or concomitance of auricular MEMs in the same neonate may have important clinical, diagnostic, pathogenetic, screening, and therapeutic value.

Auricular mild errors of morphogenesis: epidemiological study with application of a targeted computer program.

Mild errors of morphogenesis (MEMs) are findings of great importance in multiple fields because of their predictive value in identification of major malformations, specific genetic syndromes, mental retardation and childhood malignancy. In order to evaluate the contribution of auricular MEMs, we constructed a computerized program, especially designed for the recording of auricular MEMs in connection with nonauricular MEMs, personal data, family, pregnancy and birth history, presence of major malformation and postural defects. The program is easy to use and delivers, at request, immediate information regarding prevalence of each auricular MEM and percentage associations between all variables. In the period from January 1, 1999 to December 31, 1999, we screened 3107 consecutively born neonates and recorded auricular and nonauricular MEMs, detected by surface examination. The general prevalence of auricular MEMs was 43.2% and the most frequent MEMs and their associates were of postural-type. This computerized program offers many advantages for the study of ear MEMs.