Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma

We report a female newborn with characteristic signs of Antley-Bixler syndr ome (ABS) such as midface hypoplasia, radiohumeral synostosis and multiple joint contractures. The newborn also presented ambiguous genitalia, stage P rader V, and congenital adrenal hyperplasia. The mother experienced midterm virilization due to a pregnancy luteoma. Her elevated androgen levels and virilization symptoms normalized post partum without treatment. The newborn had elevated serum testosterone and 17-OH-progesterone levels which remain ed elevated because of a 21-hydroxylase deficiency. The child's treatment i n order of priority was: hydrocortisone substitution, craniofacial/ skeleta l anomaly management and surgical correction of the external genitalia. Mut ations in the genes for fibroblast growth factor (FGF) 8 and receptors FGFR 1, FGFR2, and FGFR3 were not detected. Conclusion A newborn girl with manifestations of the Antley-Bixler syndrome showed severe virilization probably caused by the association of a mild 21 -hydroxylase deficiency and maternal hyperandrogenism due to a pregnancy lu teoma. Abnormalities of androgen metabolism may be responsible for viriliza tion reported in other cases of the Antley-Bixler syndrome.