Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc.
Gynecol Endocrinol
; 35(12): 1037-1039, 2019 Dec.
Article
de En
| MEDLINE
| ID: mdl-31274036
ABSTRACT
Perrault syndrome is a rare autosomal recessive disorder that affects both males and females. The syndrome causes deafness in males, however females display gonadal dysgenesis along with sensorineural hearing loss. Herein, we present a 27-year-old female patient who is deaf and mute along with primary amenorrhea. Hormonal assays revealed hypergonadotropic hypogonadism and the karyotype was 46 XX. Pelvic ultrasound described a hypoplastic uterus and streak ovaries. MRI of the spine showed degenerative discs and Tarlov cysts. Whole exome sequencing identified a LARS2 mutation and the patient was diagnosed with Perrault syndrome type four (PRLTS4).
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Dysgénésie gonadique 46, XX
/
Surdité neurosensorielle
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
Limites:
Adult
/
Female
/
Humans
Langue:
En
Journal:
Gynecol Endocrinol
Sujet du journal:
ENDOCRINOLOGIA
/
GINECOLOGIA
Année:
2019
Type de document:
Article
Pays d'affiliation:
Arabie saoudite