Humans with Swyer syndrome develop with external phenotypes typical of females and nonfunctional gonads instead of ovaries or testes. Individuals are most commonly diagnosed during puberty after menstruation fails to occur (primary amenorrhea). The consequences of Swyer syndrome without treatment: * Gonads cannot make estrogen, so the breasts will not develop and the uterus will not grow and menstruate until estrogen is administered. This is often given transdermally. * Gonads cannot make progesterone, so menstrual periods will not be predictable until progestin is administered, usually as a pill. * Gonads cannot produce eggs, so conceiving children is not possible without embryo transfer. There has been a case of unassisted pregnancy in one woman with<unk> , who had a predominantly 46,XY karyotype – a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X), and a predominantly 46,XY karyotype in the ovary (93% 46,XY and 6% 45,X) – who gave birth to a 46,XY female with complete gonadal dysgenesis. * Streak gonads with Y chromosome-containing cells have a high likelihood of developing cancer, especially gonadoblastoma. Streak gonads are usually removed within a year or so of diagnosis, since the cancer can begin during infancy. * Osteopenia is often present.
XY gonadal dysgenesis
XX gonadal dysgenesis
Thyroid dysgenesis
Complete androgen insensitivity syndrome
Mild androgen insensitivity syndrome
Gonadotropin-releasing hormone insensitivity
Gonadal dysgenesis
Müllerian agenesis