TY  - JOUR
TI  - A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome
AB  - Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organsto AMH in individuals with 46,XY karyotype. PMDS is characterized by normal male phenotype of external genitals, associated withpersistence of Müllerian structures. This report includes the presentation of a 2.5 year old male patient due to bilateral undescendedtestis. His karyotype was 46,XY. The increase in testosterone following human chorionic gonadotropin stimulation test was normal. Thepatient was referred to our clinic after uterine, fallopian tube and vaginal remnants were recognized during the orchiopexy surgery. Thefamily reported that the eight year old elder brother of the patient was operated on for right inguinal hernia and left undescended testisat the age of one year. A right transverse testicular ectopia was found in the elder brother. Both cases had normal AMH levels. AMHR2gene was analyzed and a homozygous NM_020547.3:c.233-1G>A mutation was found that was not identified previously. In conclusion, we determined a novel mutation in the AMHR2 gene that was identified for the first time. This presented with different phenotypes in two siblings.
AU  - HASPOLAT, Yusuf Kenan
AU  - ONAY, Hüseyin
AU  - unal, edip
AU  - DEMİR, Vasfiye
AU  - yıldırım, ruken
AU  - TEKİN, Suat
DO  - 10.4274/jcrpe.0013
PY  - 2018
JO  - Journal of Clinical Research in Pediatric Endocrinology
VL  - 10
IS  - 4
SN  - 1308-5727
SP  - 387
EP  - 390
DB  - TRDizin
UR  - http://search/yayin/detay/308010
ER  -