Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome

The authors report on a child with indifferent external genitalia consistin g of severe micropenis with penile urethra leading to the tip of the glans and bilateral cryptorchidism. Diagnostic workup findings showed a female ka ryotype, homozygous 21-hydroxylase deficiency, a nd excessive testosterone exposure prenatally as a consequence of maternal pregnancy luteoma, altoget her causing this unusual phenotype. In addition, the girl suffered from ske letal anomalies consistent with the diagnosis of Antley-Bixler syndrome. Ou r case shows that, although the association of congenital adrenal hyperplas ia with other syndromes is rare, and even if other possible reasons for in utero virilization are present, complete diagnostic workup including karyot yping and hormonal status should be done in all patients with ambiguous gen italia, especially in cases of an unusual phenotype. The authors report on the diagnostic procedures and discuss the surgical approach in this particu lar case, never described before in the literature. Copyright (C) 2000 by W .B. Saunders Company.