MOLECULAR STUDY PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I (AMH GENE), SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4293

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	30 days
Information:
Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. The exact prevalence in the general population is unknown. All affected subjects are, by definition, genotypically (46, XY) and phenotypically (normally virilized external genitalia) male. Index symptoms are cryptorchidism or inguinal hernia. Testes are normally differentiated and, in the absence of long-standing cryptorchidism, usually contain germ cells. However, affected males may be infertile as the testes are frequently not properly connected to male excretory ducts due to aplasia of the epididymis and the upper part of the vas deferens. Testosterone levels are usually normal, unless testicular degeneration has occurred. PMDS is transmitted in an autosomal recessive manner. Genetic analysis of more than 100 families has shown that around 45% of cases are caused by mutations in the anti-Müllerian hormone gene (AMH; 19p13.3). Mutations in the gene encoding the AMH receptor (anti-Müllerian hormone receptor, type II, AMHR2; 12q13) are responsible for a further 40% of cases, with around half of these patients carrying the same mutation (a 27-base pair deletion in exon 10).
Links:
OMIM Entry - # 261550 - PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS
OMIM Entry - - 600957 - ANTI-MULLERIAN HORMONE; AMH

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