RESUMO
ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.
Assuntos
Humanos , Masculino , Adulto , Fenótipo , Transtorno 46,XY do Desenvolvimento Sexual/genética , Homozigoto , Mutação , Síndrome , Neoplasias Testiculares/cirurgia , Neoplasias Testiculares/genética , Seminoma/cirurgia , Seminoma/genética , Colômbia , Análise Citogenética , Criptorquidismo/cirurgia , Criptorquidismo/genética , Hormônio Antimülleriano/genética , Transtorno 46,XY do Desenvolvimento Sexual/cirurgia , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgiaRESUMO
The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.
Assuntos
Transtorno 46,XY do Desenvolvimento Sexual/genética , Homozigoto , Mutação , Fenótipo , Adulto , Hormônio Antimülleriano/genética , Colômbia , Criptorquidismo/genética , Criptorquidismo/cirurgia , Análise Citogenética , Transtorno 46,XY do Desenvolvimento Sexual/cirurgia , Humanos , Masculino , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Seminoma/genética , Seminoma/cirurgia , Síndrome , Neoplasias Testiculares/genética , Neoplasias Testiculares/cirurgiaRESUMO
ABSTRACT Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Transtornos do Desenvolvimento Sexual/diagnóstico , Hidrocolpos/diagnóstico , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Pelve/diagnóstico por imagem , Transtornos do Desenvolvimento Sexual/diagnóstico por imagem , Hidrocolpos/diagnóstico por imagem , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico por imagem , Abdome/diagnóstico por imagemRESUMO
MAIN FINDINGS: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.
