1. Persistent Müllerian duct syndrome: A novel mutation in the Αnti-Müllerian Ηormone gene
- Author
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Fahri Karaca, Ayça Altincik, Hüseyin Onay, and Ege Üniversitesi
- Subjects
Anti-Mullerian Hormone ,Male ,0301 basic medicine ,endocrine system ,medicine.medical_specialty ,Disorders of sex development ,Crytorchidism ,medicine.drug_class ,Endocrinology, Diabetes and Metabolism ,03 medical and health sciences ,Bilateral Cryptorchidism ,Internal medicine ,Cryptorchidism ,AMH ,medicine ,Humans ,Disorder of Sex Development, 46,XY ,business.industry ,Anti-Mullerian Hormone Gene ,ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS ,Infant ,General Medicine ,medicine.disease ,ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS ,ComputingMethodologies_PATTERNRECOGNITION ,030104 developmental biology ,Endocrinology ,medicine.anatomical_structure ,Persistent Müllerian duct syndrome ,InformationSystems_MISCELLANEOUS ,Gonadotropin ,business ,Novel mutation ,Duct (anatomy) ,hormones, hormone substitutes, and hormone antagonists ,Hormone - Abstract
WOS: 000408690300011, PubMed ID: 28742509, BACKGROUND AND OBJECTIVE: Persistent Mullerian duct syndrome (PMDS) is a relatively rare form of 46, XY disorder of sex development caused by the failure of formation, release or action of anti-Mullerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT: A 4-month-old male presented with bilateral cryptorchidism and normal external genitalia. The laboratory examination revealed normal gonadotropin levels for his age (FSH: 0.91 mIU/mL, LH: 1.23 mIU/mL, testosteron T)] in the AMH gene. CONCLUSION: PMDS should be kept in mind in all cases with bilateral crytorchidism. Orchidopexy and resection of Mulletian duct derivates, exercising extra caution with regard to maintaining vascular supply to the testis, is the recommended approach.
- Published
- 2017
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