Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
ORPHA:90793DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)8
HP:0000822Hypertension
HP:0000837Increased circulating gonadotropin level
HP:0008258Congenital adrenal hyperplasia
HP:0031074Abnormal response to ACTH stimulation test
HP:0032330Increased urinary 11-deoxycorticosterone level
HP:0032362Increased circulating corticosterone level
HP:0040171Decreased serum testosterone concentration
HP:0500022Abnormal serum dehydroepiandrosterone level
Частый (30–79%)20
HP:0000026Male hypogonadism
HP:0000047Hypospadias
HP:0000138Ovarian cyst
HP:0000144Decreased fertility
HP:0000771Gynecomastia
HP:0000786Primary amenorrhea
HP:0000823Delayed puberty
HP:0000858Irregular menstruation
HP:0002750Delayed skeletal maturation
HP:0002900Hypokalemia
HP:0003351Decreased circulating renin concentration
HP:0004319Decreased circulating aldosterone level
HP:0008163Decreased circulating cortisol level
HP:0008187Absence of secondary sex characteristics
HP:0008197Absence of pubertal development
HP:0008232Elevated circulating follicle stimulating hormone level
HP:0008689Bilateral cryptorchidism
HP:0011749Adrenocorticotropic hormone excess
HP:0011969Elevated circulating luteinizing hormone level
HP:0031216Increased circulating progesterone
Периодический (5–29%)13
HP:0000033Ambiguous genitalia, male
HP:0000048Bifid scrotum
HP:0000054Micropenis
HP:0000151Aplasia of the uterus
HP:0001508Failure to thrive
HP:0002221Absent axillary hair
HP:0002555Absent pubic hair
HP:0003251Male infertility
HP:0003394Muscle spasm
HP:0008207Primary adrenal insufficiency
HP:0008730Female external genitalia in individual with 46,XY karyotype
HP:0010465Precocious puberty in females
HP:0040314Blind vagina
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)