Aphallia in a patient with 9q34 duplication syndrome: a case report

Congenital aphallia is a rare condition with less than 100 documented cases. It may occur isolated or in association with additional anomalies such as gastrointestinal malformations, caudal defects, imperforate anus, and other genitourinary anomalies. All previously reported patients with aphallia had a normal karyotype; here, we report the first case associated with a chromosomal imbalance.

A newborn was found to have an absence of the penis; a pre-sphincteric urethrorectal fistula was identified and a vesicostomy was performed. Hormonal studies at three months showed elevated levels of 17-α-hydroxyprogesterone. Physical examination at 2.5 years old revealed a bifid, rough, pigmented scrotum, without palpable gonads or a urethral meatus. Ultrasound imaging showed both testicles in the inguinoscrotal region. He also presented with some craniofacial features, including dolichocephaly, prominent forehead, left palpebral ptosis and strabismus of the right eye, convex nasal ridge, narrow and high nasal bridge, overhanging nasal tip, short philtrum, ogival palate and bifid uvula, and large low-set ears rotated posteriorly. He also had hypotonia, a broad-based gait with poor balance, moderate laxity, bilateral flat feet, umbilical hernia, corpus callosum hypoplasia, and mild intellectual disability. His karyotype was 46,XY, der(15)t(9;15)(q34;p11)dn. An aCGH analysis revealed a duplication of ~ 9.7 Mb of the 9qter region containing 246 genes: arr[GRCh37] 9q34.11q34.3(131,348,076_141,019,088)x3.

To our knowledge, this is the first case of aphallia possibly associated with a chromosomal imbalance, specifically a 9q34.11-> qter duplication.