The persistent Müllerian duct syndrome : an update based upon a personal experience of 157 cases
| Autor: | Nathalie Josso, Richard L. Cate, Chrystèle Racine, J. Y. Picard |
|---|---|
| Přispěvatelé: | Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Boston University [Boston] (BU), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU) |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Infertility Anti-Mullerian Hormone Models Molecular Embryology medicine.medical_specialty endocrine system disorders of sex differentiation (DSD) Mullerian Ducts Endocrinology Diabetes and Metabolism Inheritance Patterns Biology Unilateral cryptorchidism Gene mutation medicine.disease_cause 03 medical and health sciences Internal medicine medicine AMH [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO] Humans [SDV.BDD]Life Sciences [q-bio]/Development Biology Testosterone fertility Mutation Disorder of Sex Development 46 XY hormone receptor medicine.disease Hormones 3. Good health 030104 developmental biology Endocrinology anti-Müllerian hormone [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics AMHR2 Persistent Müllerian duct syndrome Male sex differentiation mutation cryptorchidism Developmental Biology |
| Zdroj: | Reproduction, Fertility and Development Reproduction, Fertility and Development, CSIRO Publishing, 2019, 31 (7), pp.1240-1245. ⟨10.1071/RD17501⟩ |
| ISSN: | 1031-3613 |
| DOI: | 10.1071/RD17501⟩ |
| Popis: | Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia. Abnormalities of male excretory ducts are frequent. Testicular malignant degeneration occurs in 33% of adults with the disorder, while cancer of müllerian derivatives is less frequent. Fertility is rare but possible if at least one testis is scrotal and its excretory ducts are intact. Eighty families with 64 different mutations of the AMH gene have been identified, mostly in exons 1, 2, and 5. AMHRII gene mutations representing 58 different alleles have been discovered in 75 families. The most common mutation, a 27-bp deletion in the kinase domain, was found in 30 patients of mostly Northern European origin. In 12% of cases, no mutation of AMH or AMHRII has been detected, suggesting a disruption of other pathways involved in müllerian regression. |
| Databáze: | OpenAIRE |
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