Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal

Abstract

We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and peripheral anterior synechia, and 46,XY sex reversal. Testosterone and dihydrotestosterone (DHT) levels were within normal limits for a male infant at 3 weeks of age. Gonadectomy at age 18 months revealed immature testis tissue and no evidence of MÜllerian structures. PCR amplification of the androgen receptor ( AR ) gene and flanking genomic regions revealed no evidence for deletion. Array-comparative genomic hybridization (array-CGH) for assessment of gene dosage in other regions of the genome was normal. This patient represents a multiple anomaly disorder similar to intestinal atresia—ocular anomalies—microcephaly syndrome (MIM#243605) but incorporating 46,XY sex reversal with testicular tissue, demonstrating a defect in the sexual differentiation pathway. © 2003 Wiley-Liss, Inc.