RESUMO
La resistencia a la hormona tiroidea representa un síndrome heredado genéticamente, causado por mutaciones en el gen del receptor de la hormona tiroidea beta, con un amplio espectro de expresión clínica. Durante el embarazo, el conocimiento de la mutación en el feto es importante para decidir sobre el tratamiento. En este artículo, revisamos el caso de una mujer embarazada diagnosticada con resistencia a la hormona tiroidea durante el embarazo
Resistance to thyroid hormone represents a genetically inherited syndrome, caused by mutations in the thyroid hormone beta receptor gene, with a wide spectrum of clinical expressiveness. During pregnancy, the knowledge of the mutation status in the fetus is important in order to decide over the treatment. In this paper we report the case of a pregnant woman diagnosed with resistance to thyroid hormone during the pregnancy
Assuntos
Humanos , Feminino , Adulto , Síndrome da Resistência aos Hormônios Tireóideos/diagnóstico , Receptores beta dos Hormônios Tireóideos/genética , Complicações na Gravidez/genética , Doenças Genéticas Inatas/diagnóstico , Diagnóstico Pré-Natal/métodos , Triagem Neonatal/métodos , Testes de Função TireóideaRESUMO
BACKGROUND: Ectopic pregnancy after hysterectomy is a very rare condition, but it must be kept in mind in women with history of hysterectomy who present with abdominal pain and ecographic adnexal heterogeneous images. Since first described by Wendeler in 1895, at least 67 ectopic pregnancies (tubal, ovarian and abdominal) have been described in patients subjected to prior hysterectomy. CASE PRESENTATION: We describe the case of a 41-year-old white caucasian woman admitted to the emergency room due to abdominal pain for two days. The ultrasounds scan and the quantification of beta-HCG led to the diagnosis of tubal ectopic pregnancy, although she had been hysterectomized two years before. An emergency laparoscopy was performed for salpingectomy. The pathology report indicated trophoblastic tubal implantation and hematosalpinx. CONCLUSIONS: Ectopic pregnancy is one of the conditions to be considered in the differential diagnosis of abdominal pain in women of child bearing potential, and the absence of the uterus does not rule out its diagnosis.