Rabbit Anti-Human AMHR2 (internal) Polyclonal antibody

The anti-mullerian hormone (AMH) is responsible for regression of mullerian ducts during male sexual differentiation. Mutations in the AMH gene or its type II receptor gene AMHR2 lead to persistence of the uterus and fallopian tubes in male children, i.e. persistent mullerian duct syndrome (PMDS). Both conditions are transmitted according to an autosomal recessive pattern and are symptomatic only in males. We report on 2 unrelated Egyptian consanguineous families with PMDS. The first family comprised 3 affected prepubertal sibs complaining of undescended testes. Pelvic exploration and laparotomy revealed mullerian duct derivatives. The other family was presenting with an adolescent male with impalpable left testis, and pelvic exploration showed remnants of fallopian tubes and rudimentary uterus. AMH levels were very low and almost undetectable in all affected patients in both families. Direct sequencing of the coding region of the AMH gene identified 2 homozygous mutations in exon 1, R95X in the first family and V12G in the second family. These data confirmed the autosomal recessive type of PMDS. Molecular investigation of this rare disorder in a larger number of cases with undescended testes in Egypt is warranted for proper diagnosis and genetic counseling. Copyright (C) 2011 S. Karger AG, Basel

Introduction Oocyte competence and quality depend on communication between the oocyte and the cumulus and theca cells. In the preantral phase, the members of the transforming growth factor beta (TGF-beta) superfamily are responsible for this communication and play an important role in folliculogenesis. Members of the TGF-beta superfamily are related to endometriosis (overexpression in the ectopic endometrium); however, few studies have explored these proteins as influencing fertility in endometriosis. Considering endometriosis-related infertility and to better understand the role of the TGF-beta superfamily members in the antral phase in women with endometriosis, this research investigated the gene expression of the genes for ligandsAMH,BMP-6,GDF-9,INHA,INHBB, andTGF beta 3; receptorsAMHR2,BMPR2, andTGF beta R3; and intracellular signalling:SMAD3andSMAD4. Material and methods The gene expression ofAMH,BMP-6,GDF-9,INHA,INHBB,TGF beta 3,AMHR2,BMPR2,TGF beta R3,SMAD3, andSMAD4in cumulus cells was investigated through quantitative real-time PCR in a case-control study including infertile women with and without peritoneal endometriosis undergoing in vitro fertilization. Results Age and outcomes of assisted reproduction were similar between the groups (P > .05). However, women with endometriosis showed reduced expression ofBMP-6andSMAD4(P < .05) in cumulus cells compared with the control group, other genes did not present altered gene expression in women with endometriosis (P > .05). Conclusions The reduced expression ofBMP-6andSMAD4in women with peritoneal endometriosis compared with the control group indicates that granulosa (cumulus) cell function could be altered in these women.