RESUMO
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.
Assuntos
Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/diagnóstico , Hidrocolpos/diagnóstico , Abdome/diagnóstico por imagem , Adolescente , Transtorno 46,XY do Desenvolvimento Sexual/diagnóstico por imagem , Transtornos do Desenvolvimento Sexual/diagnóstico por imagem , Feminino , Humanos , Hidrocolpos/diagnóstico por imagem , Masculino , Pelve/diagnóstico por imagemRESUMO
The ionic contrast media used so far have been associated with considerable risks in infants and children. The high osmolality of these media did not always permit a dosage sufficient for kidney imaging in the nephrographic and in the pyelographic phase. The new non-ionic contrast media have largely reduced these risks so that their general application in infants and young children should be recommended. Intravenous urographies using the non-ionic contrast medium Iopamidol 300 (Solutrast 300) were performed in 195 children aged one day to 12 years. Good to superior urograms were obtained in 85% of the investigations. No adverse reactions caused by the osmolality of the contrast media had been observed in spite of the relative high dosage. As a result of their low osmolality and non-ionic property a safe application of high doses was possible.