Lethal comorbidity with genital anomaly in the infant.

OBJECTIVE

Genital anomaly (GA) carries a risk of life-threatening comorbidity which is not well defined and is under reported. We aimed to determine the associated anomalies in children with GA who died.

MATERIALS AND

METHODS

We retrospectively reviewed the deaths among all GA patients presenting to our institution over 32 years (1970-2001). Seventy children with exstrophy/epispadias were excluded, leaving 200 patients, of whom 26 had died. Hospital and postmortem records were examined for biographical data, karyotype, morphological anomalies and causes of death.

RESULTS

Sixty-eight out of 200 patients had congenital adrenal hyperplasia (CAH), with two deaths, from cardiomyopathy and encephalitis. Of the 132 non-CAH patients, 24 (17%) died. Sixteen deaths were in the non-CAH intersex group of patients with GA. There were eight deaths in the non-intersex genital anomaly group, which included five with a cloacal anomaly (+/- VATER association). Fifteen had major cardiac anomalies and 10 had facial dysmorphism suggesting a syndrome. Two infants died of renal failure with Denys-Drash syndrome.

CONCLUSIONS

Infants with a non-CAH intersex GA have a high risk of mortality, particularly from an associated cardiac anomaly. This mortality may decrease in the future with cardiac surgical advances. There is a significant mortality in infants with non-intersex GA (anorectal malformations and cloacal anomalies) also due to complex cardiac and/or renal anomalies. Major chromosomal aberrations and facial dysmorphism were noted in some patients in both study groups. GA associated with testicular dysgenesis and/or imperforate anus requires screening for cardiac defects, chromosomal anomalies and dysmorphology syndromes.