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11.
Sandrine Imbeaud Rodofo Rey Philippe Berta Jean-Louis Chaussain Jan-Maarten Wit Robert H. Lustig Jeah-Yves Picard N. Josso 《European journal of pediatrics》1995,154(3):187-190
The presistent Müllerian duct syndrome, characterized by the presence of uterus and tubes in males, is a familial disorder due to defects of synthesis or action of anti-Müllerian hormone, a Sertoli cell glycoprotein responsible for the regression of Müllerian derivatives in normal male fetuses. Patients are normally virilized and testicular production of testosterone is normal. Both testes my be cryptorchild; alternatively, one may be descended into the inguinal canal or scrotum, together with the Müllerian derivatives, a condition known as hernia uteri inguinalis. We have recently observed three patients affected by the presistent Müllerian duct syndrome who experienced progressive degeneration of testicular tissue. In two, functional testicular tissue was still present some months after birth, but deteriortated progressively later. In one patient, testicular tissue was already absent at birth, but the normal virilization of external genitalia indicated that testicular degeneration must have occurred lat during fetal life, after the expected time of regression of male Müllerian ducts.Conclusion The high incidence of degeneration of testicular tissue in the presistent Müllerian duct syndrome could be indirectly linked to anatomical abnormalities which could favour testicular torsion, known to induce testicular regression. 相似文献
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María Verónica Reyes Francisco Vanaclocha Sebastián 《Seminarios de la Fundación Espa?ola de Reumatología》2012,13(3):77-84
Lupus erythematosus (LE) is an autoimmune inflammatory disease that includes a broad spectrum of manifestations, ranging from systemic disease (systemic lupus erythematosus [SLE]) to purely cutaneous forms (cutaneous lupus erythematosus [CLE]).Cutaneous involvement occurs in 90% of patients with SLE.Based on morphological and histopathological features, CLE can be divided into three categories: chronic CLE, subacute CLE and acute CLE.The precise etiology of LE is not fully understood, but the disease occurs when environmental factors, drugs and infectious agents trigger an abnormal immune response in an individual with predisposing genetic factors.To assess cutaneous involvement, several scores have been developed over the years. A recent study, called CLASI (Cutaneous Lupus Erythematosus Disease Area and Severity Index), staged mucocutaneous damage and disease activity separately, allowing assessment of therapeutic response to be standardized.The management of CLE is challenging. Although treatment traditionally consists of photoprotection, topical steroids and antimalarial agents, these measures are sometimes ineffective in subgroup of patients, giving rise to what is called resistant CLE.This article reviews the topical and systemic treatment options, both the classical and new treatment alternatives currently available. 相似文献