Afliações:
1 Pediatric Surgery Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal
2 Pediatric Endocrinology Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal
3 Genetics Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal
Divulgação:
- Journal of Pediatric Surgical Specialties, Vol 8 / No 3 / 2014
- Artigo científico
Resumo:
We report acase of ovotesticular disorder of sex development (DSD) with ambiguous genitalia, 46XX presenting the clinical, laboratory, imaging and operative findings and highlighting the per- tinent features of this case. Results of hormonal, genetic testing and histopathology findings are reviewed. Diagnosis of true hermaphroditism is well defined and the condition can be recognized even prenatally. Conservative gonadal surgery is the procedure of choice after the diagnosis of true hermaphroditism, if the risk of a gonadal malignancy is low. Continued follow-up is neces- sary because of the multiple psychological, gynecological and urological problems encountered postpubertally by these patients.
Palavras Chave: disorder of sex development, ovotestis, true hermaphroditism, disorder of sex develop- ment, ambiguous genitalia
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TÌTULO: A CASE OF LATE-DIAGNOSED OVOTESTICULAR DISORDER OF SEX DEVELOPMENT |
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Autores: Maria Knoblich1, Vanda Pratas Vital1, Dinorah Cardoso1, Fátima Alves1, Filipe Catela Mota1, Lurdes Lopes2, Teresa Kay3, Paolo Casella1 |
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Afliações: 1Pediatric Surgery Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal 2Pediatric Endocrinology Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal 3Genetics Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal |
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Divulgação: - Journal of Pediatric Surgical Specialties, Vol 8 / No 3 / 2014 - Artigo científico |
|
Resumo: We report acase of ovotesticular disorder of sex development (DSD) with ambiguous genitalia, 46XX presenting the clinical, laboratory, imaging and operative findings and highlighting the per- tinent features of this case. Results of hormonal, genetic testing and histopathology findings are reviewed. Diagnosis of true hermaphroditism is well defined and the condition can be recognized even prenatally. Conservative gonadal surgery is the procedure of choice after the diagnosis of true hermaphroditism, if the risk of a gonadal malignancy is low. Continued follow-up is neces- sary because of the multiple psychological, gynecological and urological problems encountered postpubertally by these patients.
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Palavras Chave: disorder of sex development, ovotestis, true hermaphroditism, disorder of sex develop- ment, ambiguous genitalia |