With the AMH gene mutation (PMDS Type 1), the AMH is either not produced, produced in deficient amounts, defective, secreted at the wrong critical period for male differentiation or the Müllerian ducts 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 PMDS, is a 27 base-pair deletion of the Anti-Müllerian Type 2 Receptor gene. The 27-base-pair deletion that occurs PMDS is in exon 10 on one allele.PMDS 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 PMDS, though remain as carriers. Males are affected genotypically with the karyotype (46, XY) and phenotypically. Mechanism
AMH (anti Müllerian hormone) is produced by the primitive Sertoli cells as one of the earliest Sertoli cell products and induces regression of the Müllerian ducts. Fetal Müllerian ducts are only sensitive to AMH action around the 7th or 8th week of gestation, and Müllerian regression is completed by the end of the 9th week. The AMH induced regression of the Müllerian duct occurs in cranio-caudal direction via apoptosis.
Andrews states his information is derived from an earlier work, Les Femmes, les eunuques, et les guerriers du Soudan, published by a French explorer, Count Raoul du Bisson, in 1868, though this detail does not appear in Du Bissons book.Remondinos claims were repeated in similar form by Henry G. Spooner in 1919, in the American Journal of Urology and Sexology. Spooner, an associate of William J. Robinson, referred to the monastery as "Abou Gerbe in Upper Egypt".According to Remondino, Spooner, and several later sources, the Coptic priests sliced the penis and testicles off Nubian or Abyssinian slave boys around the age of eight. The boys were captured from Abyssinia and other areas in Sudan like Darfur and Kordofan, then brought into Sudan and Egypt. During the operation, the Coptic clergyman chained the boys to tables, then, after slicing off their sexual organs, stuck a piece of bamboo into the urethra and submerged them in neck-high sand under the sun. The survival rate was ten percent. Slave traders made especially large profits off eunuchs from this region.However, neither "Abou Gerbe", as an actual monastery, nor "Mount Ghebel Eter", as an actual location, are known. Additionally, the cited references from Andrews, Remondino and Spooner appear circular, originating in tales told by a single French explorer. The later cited sources simply copy the earlier ones. Further, the 90% mortality rate seems economically improbable, given that it would require that markets paid at least 15 times the value of an uncastrated slave boy for a eunuch slave boy.