Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families.
Edip UnalAmine Aktar KarakayaAslı BeştaşRuken YıldırımFunda Feryal TaşHüseyin OnayFerda ÖzkınayYusuf Kenan HaspolatPublished in: Journal of endocrinological investigation (2020)
We identified four novel mutations in the AMHR2 gene resulting in PMDS. Duplication mutation (c.1460dup) in the AMHR2 gene causing PMDS was demonstrated for the first time. The most important complications of PMDS are infertility and malignancy. Early diagnosis is vital to preventing malignancy. Vas deferens and vascular structures may be injured during orchiopexy. Therefore, patients should always be referred to experienced clinics.