Reviewing old concepts at the start of a new millenium: growth restriction, adrenal hypoplasia, and thymomegaly in human anencephaly.

BACKGROUND Anencephaly has been associated frequently with intrauterine growth retardation (IUGR), consistently with adrenal hypoplasia, and occasionally with an enlarged thymus. Few studies have analyzed the relationship between gestational age (GA), IUGR, associated anomalies and thymomegaly in anencephaly. The aims of our study were to evaluate this relationship and to highlight the usefulness of anencephaly as a model when investigating immune-endocrine interactions. METHODS Fifty-two anencephalics' autopsies were reviewed retrospectively. Body weight, adrenal, and thymus weights were compared to prenatal, postnatal, and stillborn control values, and between associated and isolated anencephalic cases (presenting with and without other unrelated anomalies). Comparisons of adrenal and thymus weights were done by GA and by body weight. Thymus weight:body weight (TW:BW) ratios were compared to expected values. RESULTS Anencephalics' body and adrenal weights were lower than their control values, whereas thymus weights did not differ. Body and thymus weights were twice as high in isolated than in associated anencephaly, whereas adrenal weights did not differ. Anencephalics TW:BW ratios were higher than their control values, higher in cases with IUGR, and higher in isolated rather than associated cases. When distributed by GA, thymus weights in anencephaly increased at a higher-than-expected rate. CONCLUSIONS Our results suggest that adrenal hypoplasia is invariably present in anencephaly, and depending on an underdeveloped pituitary gland, seems to be independent of its etiology. On the contrary, IUGR mainly exists in associated cases and thymus enlargement mainly exists in isolated cases, suggesting a relationship with the underlying cause.