Complete androgen insensitivity syndrome
ORPHA:99429DiseaseX-linked recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)25
Очень частый (80–99%)13
HP:0030088Increased serum testosterone level
HP:0040314Blind vagina
HP:0000008Abnormal morphology of female internal genitalia
HP:0000098Tall stature
HP:0000151Aplasia of the uterus
HP:0000786Primary amenorrhea
HP:0003251Male infertility
HP:0008655Aplasia/Hypoplasia of the fallopian tube
HP:0008689Bilateral cryptorchidism
HP:0008730Female external genitalia in individual with 46,XY karyotype
HP:0011969Elevated circulating luteinizing hormone level
HP:0012888Abnormality of the uterine cervix
HP:0025134Increased serum estradiol
Частый (30–79%)7
HP:0000739Anxiety
HP:0000823Delayed puberty
HP:0002215Sparse axillary hair
HP:0002221Absent axillary hair
HP:0002225Sparse pubic hair
HP:0002555Absent pubic hair
HP:0031102Increased antimullerian hormone level
Периодический (5–29%)2
HP:0000716Depression
HP:0010788Testicular neoplasm
Очень редкий (1–4%)3
HP:0001061Acne
HP:0030346Abnormal circulating follicle-stimulating hormone level
HP:0100728Germ cell neoplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.83 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)