45,X/46,XY mixed gonadal dysgenesis
ORPHA:1772Malformation syndromeNot applicable, UnknownAll ages
Ассоциированные гены1
Фенотипы (HPO)60
Очень частый (80–99%)4
HP:0000028Cryptorchidism
HP:0004322Short stature
HP:0008968Muscle hypertrophy of the lower extremities
HP:0012741Unilateral cryptorchidism
Частый (30–79%)12
HP:0000027Azoospermia
HP:0000033Ambiguous genitalia, male
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000061Ambiguous genitalia, female
HP:0000062Ambiguous genitalia
HP:0000808Penoscrotal hypospadias
HP:0000812Abnormal internal genitalia
HP:0000837Increased circulating gonadotropin level
HP:0003251Male infertility
HP:0008689Bilateral cryptorchidism
HP:0100779Urogenital sinus anomaly
Периодический (5–29%)44
HP:0000039Epispadias
HP:0000041Chordee
HP:0000045Abnormality of the scrotum
HP:0000048Bifid scrotum
HP:0000077Abnormality of the kidney
HP:0000085Horseshoe kidney
HP:0000150Gonadoblastoma
HP:0000218High palate
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000403Recurrent otitis media
HP:0000465Webbed neck
HP:0000505Visual impairment
HP:0000639Nystagmus
HP:0000729Autistic behavior
HP:0000767Pectus excavatum
HP:0000771Gynecomastia
HP:0000821Hypothyroidism
HP:0000823Delayed puberty
HP:0001087Developmental glaucoma
HP:0001256Intellectual disability, mild
HP:0001513Obesity
HP:0001647Bicuspid aortic valve
HP:0001649Tachycardia
HP:0001657Prolonged QT interval
HP:0001680Coarctation of aorta
HP:0001822Hallux valgus
HP:0002162Low posterior hairline
HP:0002164Nail dysplasia
HP:0002442Dyscalculia
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0002967Cubitus valgus
HP:0006610Wide intermamillary distance
HP:0010044Short 4th metacarpal
HP:0010464Streak ovary
HP:0010743Short metatarsal
HP:0012861Ovotestis
HP:0012887Ovarian serous cystadenoma
HP:0030079Cervix cancer
HP:0030680Abnormal cardiovascular system morphology
HP:0040171Decreased serum testosterone concentration
HP:0000358Posteriorly rotated ears
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)