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

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AudienciaPúblico en generales_ES
CoberturaMéxico[ 143]es_ES
Fecha de ingreso2026-10-05T16:34:49Z
Fecha de publicación2025-01-01
ResumenIntroduction 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-alpha-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 similar to 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.es_ES
Doihttps://doi.org/10.1186/s12894-025-01818-3es_ES
URIhttps://riuat.uat.edu.mx/handle/123456789/6308
IdiomaInglés[20]es_ES
EditorialBMCes_ES
RelaciónBMC Urologyes_ES
URL relacionadohttps://doi.org/10.1186/s12894-025-01818-3es_ES
DerechosAcceso abierto (Metadatos de producción científica)es_ES
Licenciahttp://purl.org/coar/access_right/c_abf2es_ES
FuenteBMC Urology
Palabra claveAphalliaes_ES
Palabra clave9q34 duplication syndromees_ES
Palabra claveCase reportes_ES
TítuloAphallia in a patient with 9q34 duplication syndrome: a case reportes_ES
TipoPonenciaes_ES
ArbitradoHa sido Arbitradoes_ES
AutorMeza-Espinoza, Juan Pablo
AutorGonzalez-Garcia, Juan Ramon
AutorPatron-Baro, Liliana Itzel
AutorGonzalez-Arreola, Rosa Maria
AutorContreras-Gutierrez, Jose Alfredo
AutorCamberos-Barraza, Josue
AutorMaduena-Molina, Jesus
AutorCamacho-Zamora, Alejandro
AutorAvendano-Galvez, Roberto Ivan
AutorPicos-Cardenas, Veronica Judith
AutorMeza-Espinoza, Juan Pabloes_ES
AutorGonzalez-Garcia, Juan Ramones_ES
AutorPatron-Baro, Liliana Itzeles_ES
AutorGonzalez-Arreola, Rosa Mariaes_ES
AutorContreras-Gutierrez, Jose Alfredoes_ES
AutorCamberos-Barraza, Josuees_ES
AutorMaduena-Molina, Jesuses_ES
AutorCamacho-Zamora, Alejandroes_ES
AutorAvendano-Galvez, Roberto Ivanes_ES
AutorPicos-Cardenas, Veronica Judithes_ES
InstituciónUniversidad Autónoma de Tamaulipas
InstituciónUniversidad Autónoma de Tamaulipases_ES
Número1es_ES
URL relacionadahttps://doi.org/10.1186/s12894-025-01818-3
Tipo de artículoIndexado
Tipo de artículoIndexadoes_ES
Volumen25es_ES

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