RESUMO
INTRODUCTION: Complete androgen insensitivity is a rare syndrome. It is caused by a mutation in the androgen receptor gene. We describe a novel mutation in exon 1. MATERIALS AND METHODS: We report the case of a 29 year-old girl with complete androgen insensitivity syndrome discovered during the exploration of a primary amenorrhoea. The family investigation revealed two other cases. RESULTS: The diagnosis was oriented by the clinical and the biological features and confirmed by the molecular study. A new mutation of the androgen receptor gene, as a deletion in exon 1 not described previously, was identified. CONCLUSION: Through these cases, clinical, hormonal and histological particularities were analysed.
Assuntos
Síndrome de Resistência a Andrógenos/genética , Mutação , Receptores Androgênicos/genética , Adolescente , Adulto , Éxons , Feminino , Humanos , Cariotipagem , Masculino , Linhagem , Deleção de Sequência , Testículo/patologia , TunísiaRESUMO
INTRODUCTION: The hydatid cyst of Echinococcus granulosus tends to develop in liver. The primary bone hydatidosis is rare. EXEGISIS: The authors report 2 cases of primary hydatidosis of bone in a 57 year old men and 60 year old diabetic women. The symptoms and signs were not specific. The ultrasound investigation: standard radiography and computed tomographic scan, was suggestive of the lesion. The chest radiograph and the abdominal ultrasound were normal. Serological tests for hydatid disease were positive. The two patients have surgical excision and medical treatment: Albendazole administrated for 6 months. Histologic evidence confirmed the diagnosis. The outcome was good for both patients without recurrence after 2 years. CONCLUSION: Through these 2 cases and a review of the literature, the authors analyse the epidemiological and clinical aspects of bone hydatidosis and discuss the therapeutic procedures.
