Mutation in AMH gene <unk>  Type 1) or AMHR2 gene <unk>  Type 2) are the primary causes of<unk> . AMH, or sometimes referred to as<unk>  inhibiting substance (MIS), is secreted by Sertoli cells during an individual's whole life. It is essential during the foetal period as it functions to regress the<unk> <unk> s. However, AMH also functions in the last trimester of pregnancy, after birth, and even during adulthood in minimal amounts. The Sertoli cells in males secrete AMH, through the presence of a Y chromosome. The role of the AMH gene in reproductive development, is the production of a protein that contributes to male sex differentiation. During development of male foetuses, the AMH protein is secreted by cells within the testes. AMHs bind to the AMH Type 2 Receptors, which are present on cells on the surface of the<unk> <unk> . The binding of AMH to its receptors on the<unk> <unk>  induces the apoptosis of the<unk> <unk>  cells, thus the regression of the<unk> <unk>  within males. However, for females who originally do not produce AMH proteins during foetal development, the<unk> <unk>  eventually becomes the uterus and fallopian tubes as normal. With the AMH gene mutation <unk>  Type 1), the AMH is either not produced, produced in deficient amounts, defective, secreted at the wrong critical period for male differentiation or the<unk> <unk> s manifested a resistance to AMH. AMHR2 contains the instructions for generating the receptors that AMH binds to. If there if a mutation in the AMHR2 gene, the response to AMH molecules binding to the receptor cannot be properly reciprocated. Other possibilities include an absence of the receptors, such that the AMH molecules cannot induce differentiation. Mutation in the AMHR2 is critical to proper male sex differentiation. The genetic mutational cause of<unk> , is a 27 base-pair deletion of the Anti-Müllerian Type 2 Receptor gene. The 27-base-pair deletion that occurs<unk>  is in exon 10 on one allele.<unk>  is inherited in an autosomal recessive manner. The male individuals inherit mutated copies of the X chromosomes from the maternal and paternal genes, implying the parents are carriers and do not show symptoms. Females inheriting two mutated genes do not display symptoms of<unk> , though remain as carriers. Males are affected genotypically with the karyotype (46, XY) and phenotypically.
Persistent Müllerian duct syndrome
Mixed Müllerian tumor
Müllerian agenesis
Testicular dysgenesis syndrome
Persistent adrenarche syndrome
Cryptorchidism
Ovarian remnant syndrome
Caudal regression syndrome