Partial androgen insensitivity syndrome
ORPHA:90797DiseaseX-linked recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)7
HP:0000151Aplasia of the uterus
HP:0003251Male infertility
HP:0010463Aplasia of the ovary
HP:0011969Elevated circulating luteinizing hormone level
HP:0030088Increased serum testosterone level
HP:0031102Increased antimullerian hormone level
HP:0040307Male sexual dysfunction
Частый (30–79%)5
HP:0000047Hypospadias
HP:0000062Ambiguous genitalia
HP:0000771Gynecomastia
HP:0008689Bilateral cryptorchidism
HP:0025132Abnormal circulating estrogen level
Периодический (5–29%)14
HP:0000027Azoospermia
HP:0000048Bifid scrotum
HP:0000051Perineal hypospadias
HP:0000054Micropenis
HP:0000786Primary amenorrhea
HP:0001620Abnormally high-pitched voice
HP:0008189Insulin insensitivity
HP:0008665Clitoral hypertrophy
HP:0009888Abnormality of secondary sexual hair
HP:0025134Increased serum estradiol
HP:0025486Fused labia majora
HP:0040314Blind vagina
HP:0100728Germ cell neoplasia
HP:0100779Urogenital sinus anomaly
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)