A Novel AMH Missense Mutation in a Patient with Persistent Müllerian Duct Syndrome
| Autor: | J.A. Visser, Stenvert L. S. Drop, Hennie T. Brüggenwirth, Y.G. van der Zwan, Lhj Looijenga, G.C. Madern, Katja P. Wolffenbuttel |
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| Rok vydání: | 2012 |
| Předmět: |
endocrine system
Embryology medicine.medical_specialty biology medicine.diagnostic_test urogenital system Endocrinology Diabetes and Metabolism Uterus Anti-Müllerian hormone medicine.disease Frameshift mutation medicine.anatomical_structure Endocrinology Internal medicine Persistent Müllerian duct syndrome Biopsy medicine Vagina biology.protein Missense mutation Gene Developmental Biology |
| Zdroj: | Sexual Development. 6:279-283 |
| ISSN: | 1661-5433 1661-5425 |
| DOI: | 10.1159/000339704 |
| Popis: | Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation. |
| Databáze: | OpenAIRE |
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