Endocrinology · Endocrinology / Reproductive endocrinology
Swyer syndrome
also: 46,XY complete gonadal dysgenesis
Female phenotype with 46,XY karyotype and streak gonads.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Reproductive endocrinology
- Sex & age distribution
- Male: not applicable; Female: affected (46,XY); Children: yes, diagnosed at puberty
- Gene(s) involved
- DHH, DMRT1, MAP3K1, NR5A1, SOX9, SRY, WT1
- Alternative names & eponyms
- 46,XY complete gonadal dysgenesis
Etiology & mechanism
Failure of testis determination.
Gene(s) involved (7)
Symptoms & signs (7)
In plain terms, someone with Swyer syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Frasier syndrome
primary amenorrhea, streak gonads
2 shared
Kallmann syndrome
absent puberty, primary amenorrhea
1 shared
Androgen insensitivity syndrome
primary amenorrhea
1 shared
Klinefelter syndrome
tall stature
1 shared
Marfan syndrome
tall stature
1 shared
Mayer–Rokitansky–Küster–Hauser syndrome
primary amenorrhea
1 shared
Perrault syndrome
primary amenorrhea
1 shared
Sotos syndrome
tall stature
1 shared
Triple X syndrome
tall stature
1 shared
Turner syndrome
primary amenorrhea
Loading…
Loading…