(2)
Swyer syndrome should be included in the differential diagnosis of complete androgen insensitivity syndrome (CAIS) and 17a-hydroxylase deficiency syndrome, which also present with a 46XY karyotype.
A unique consideration in patients with dysgerminoma or choriocarcinoma is the possible diagnosis of XY gonadal dysgenesis, or Swyer syndrome. (14,15) This may be seen in young girls with female external genitalia and primary amenorrhea.
Malignant germ cell tumors associated with Swyer Syndrome. Pediatr Blood Cancer.
Simple 46,XY gonadal dysgenesis, also called Swyer syndrome, is a very rare condition, and has been estimated to occur in approximately 1/100 000 people.
Dysgerminoma in three patients with Swyer syndrome. World J Surg Oncol 2007;5(1):71-75.
reversal cases, whether due to AIS or
Swyer syndrome or another DSD,
Laparoscopic removal of dysgenetic gonads containing a gonadoblastoma in a patient with
Swyer syndrome. Obstet Gynecol 1992, 79:842-844.
(107) In
Swyer syndrome, (108) also referred to as 46,XY pure gonadal dysgenesis, individuals have a female phenotype with unambiguously female genitalia at birth, normal mullerian structures, and presentation associated with primary amenorrhea.
Fertilization of an egg by sperm containing a Y chromosome without SRY creates an XY embryo, which develops as a female (called the
Swyer syndrome, occurrence 1:100,000).
Identification of a new mutation in the SRY gene in a 46, XY woman with
Swyer syndrome. Fertil Steril 2009;91:932.e7-11.
The testis, the source of anti-Mullerian hormone, is not present in
Swyer syndrome.