Aphallia in a patient with 9q34 duplication syndrome: a case report
Abstract Introduction 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 pa...
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BMC
2025-05-01
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| Online Access: | https://doi.org/10.1186/s12894-025-01818-3 |
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| author | Juan Pablo Meza-Espinoza Juan Ramón González-García Liliana Itzel Patrón-Baro Rosa María González-Arreola José Alfredo Contreras-Gutiérrez Josué Camberos-Barraza Jesús Madueña-Molina Alejandro Camacho-Zamora Roberto Iván Avendaño-Gálvez Verónica Judith Picos-Cárdenas |
| author_facet | Juan Pablo Meza-Espinoza Juan Ramón González-García Liliana Itzel Patrón-Baro Rosa María González-Arreola José Alfredo Contreras-Gutiérrez Josué Camberos-Barraza Jesús Madueña-Molina Alejandro Camacho-Zamora Roberto Iván Avendaño-Gálvez Verónica Judith Picos-Cárdenas |
| author_sort | Juan Pablo Meza-Espinoza |
| collection | DOAJ |
| description | Abstract Introduction 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. Case presentation 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. Conclusion To our knowledge, this is the first case of aphallia possibly associated with a chromosomal imbalance, specifically a 9q34.11-> qter duplication. |
| format | Article |
| id | doaj-art-355ce94e7661405ea4953478a66fcf29 |
| institution | OA Journals |
| issn | 1471-2490 |
| language | English |
| publishDate | 2025-05-01 |
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| spelling | doaj-art-355ce94e7661405ea4953478a66fcf292025-08-20T02:34:19ZengBMCBMC Urology1471-24902025-05-012511510.1186/s12894-025-01818-3Aphallia in a patient with 9q34 duplication syndrome: a case reportJuan Pablo Meza-Espinoza0Juan Ramón González-García1Liliana Itzel Patrón-Baro2Rosa María González-Arreola3José Alfredo Contreras-Gutiérrez4Josué Camberos-Barraza5Jesús Madueña-Molina6Alejandro Camacho-Zamora7Roberto Iván Avendaño-Gálvez8Verónica Judith Picos-Cárdenas9Facultad de Medicina Matamoros, Universidad Autónoma de TamaulipasDivisión de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro SocialMaestría en Ciencias en Biomedicina Molecular, Facultad de Medicina, Universidad Autónoma de SinaloaDoctorado en Genética Humana, Universidad de GuadalajaraCentro Investigación en Docencia en Ciencias de la Salud, Universidad Autónoma de SinaloaFacultad de Medicina, Universidad Autónoma de SinaloaFacultad de Medicina, Universidad Autónoma de SinaloaFacultad de Medicina, Universidad Autónoma de SinaloaCentro de Rehabilitación y Educación Especial-DIF SinaloaFacultad de Medicina, Universidad Autónoma de SinaloaAbstract Introduction 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. Case presentation 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. Conclusion To our knowledge, this is the first case of aphallia possibly associated with a chromosomal imbalance, specifically a 9q34.11-> qter duplication.https://doi.org/10.1186/s12894-025-01818-3Aphallia9q34 duplication syndromeCase report |
| spellingShingle | Juan Pablo Meza-Espinoza Juan Ramón González-García Liliana Itzel Patrón-Baro Rosa María González-Arreola José Alfredo Contreras-Gutiérrez Josué Camberos-Barraza Jesús Madueña-Molina Alejandro Camacho-Zamora Roberto Iván Avendaño-Gálvez Verónica Judith Picos-Cárdenas Aphallia in a patient with 9q34 duplication syndrome: a case report BMC Urology Aphallia 9q34 duplication syndrome Case report |
| title | Aphallia in a patient with 9q34 duplication syndrome: a case report |
| title_full | Aphallia in a patient with 9q34 duplication syndrome: a case report |
| title_fullStr | Aphallia in a patient with 9q34 duplication syndrome: a case report |
| title_full_unstemmed | Aphallia in a patient with 9q34 duplication syndrome: a case report |
| title_short | Aphallia in a patient with 9q34 duplication syndrome: a case report |
| title_sort | aphallia in a patient with 9q34 duplication syndrome a case report |
| topic | Aphallia 9q34 duplication syndrome Case report |
| url | https://doi.org/10.1186/s12894-025-01818-3 |
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