Question

4. What does a person with a normal XY chromosome complement along with a deficiency in the antiMullerian hormone receptor gene look like, inside and out, and why?

Answer 1

The 46, XY disorder of sex development (46, XY DSD) are characterized by a typical or female external genitalia caused by incomplete intrauterine masculinization with or without the presence of mullerian structure . male gonads are identified in the majority of 46.XY DSD patients but in some of them no gonadal tissue is found . complete absence of virilization result in normal female external genitalia and these patient generally seek medical attention at pubertal age , due to absence of breast development and / or primary amenorrhea. 46 XY can result either from decreased synthesis of testosterone or DHT or from impairment of androgen action .

anti mullerian harmone have role in regulating sex steroid production in puberty and in the adult ovaries and testis. anti mullerian harmone appear in the ovary in the early stage of development of follicle, which contain and support the egg prior to fertilisation.