Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome
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چکیده
منابع مشابه
Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome.
OBJECTIVE To screen for mutations in AMH and AMHR2 genes in patients with persistent Müllerian duct syndrome (PMDS). PATIENTS AND METHOD Genomic DNA of eight patients with PMDS was obtained from peripheral blood leukocytes. Directed sequencing of the coding regions and the exon-intron boundaries of AMH and AMHR2 were performed. RESULTS The AMH mutations p.Arg95*, p.Arg123Trp, c.556-2A>G, an...
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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 frameshif...
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Persistent Mullerian Duct Syndrome (PMDS) is characteristically associated with unilateral or bilateral cryptoorchidism. Like other undescended testis, these gonads are at an increased risk of malignant transformation. We report a case of intra abdominal seminoma in cryptorchid testis of a patient with the Persistent Mullerian Duct Syndrome, hitherto uncommonly reported in India.
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ژورنال
عنوان ژورنال: Arquivos Brasileiros de Endocrinologia & Metabologia
سال: 2012
ISSN: 0004-2730
DOI: 10.1590/s0004-27302012000800002