Abstract
Dysgenetic testis is the characteristic gonad of genetically and phenotypically male patients with a defect in the anti-Müllerian hormone (AMH) system. There are three syndromes with persistent Müllerian derivatives: mixed gonadal dysgenesis, also known as asymmetrical gonadal differentiation or Sohval’s syndrome, dysgenetic male pseudohermaphroditism, and persistent Müllerian duct syndrome (PMDS), known as hernia uteri inguinalis or male with uterus. Although the predominant phenotype is masculine and consists of patients who consult for cryptorchidism and inguinal hernia, or infertility and azoospermia, there are also patients with female phenotype, short height, and with or without Turner’s syndrome. It is a group of DSD whose treatment is of significant complexity as to which action is to be taken with the gonads (orchiectomy versus descent), removal or not of Müllerian derivatives, and the need for close monitoring as it is a group of patients with a high tumor risk. Patients develop tumors not only in the dysgenetic testis but also in Müllerian remnants.
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Nistal, M., González-Peramato, P., Serrano, Á. (2017). Clinical Syndromes Associated with Dysgenetic Testis. In: Clues in the Diagnosis of Non-tumoral Testicular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-49364-0_4
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DOI: https://doi.org/10.1007/978-3-319-49364-0_4
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