Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
ORPHA:90791DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)1
HP:0008258Congenital adrenal hyperplasia
Частый (30–79%)23
HP:0000033Ambiguous genitalia, male
HP:0000047Hypospadias
HP:0000061Ambiguous genitalia, female
HP:0000127Renal salt wasting
HP:0000771Gynecomastia
HP:0000848Increased circulating renin level
HP:0000953Hyperpigmentation of the skin
HP:0001944Dehydration
HP:0001998Neonatal hypoglycemia
HP:0002013Vomiting
HP:0002153Hyperkalemia
HP:0002615Hypotension
HP:0002902Hyponatremia
HP:0004319Decreased circulating aldosterone level
HP:0008163Decreased circulating cortisol level
HP:0008665Clitoral hypertrophy
HP:0011749Adrenocorticotropic hormone excess
HP:0012041Decreased fertility in males
HP:0025380Increased circulating androstenedione concentration
HP:0030088Increased serum testosterone level
HP:0031213Elevated circulating 17-hydroxyprogesterone
HP:0040171Decreased serum testosterone concentration
HP:0500022Abnormal serum dehydroepiandrosterone level
Периодический (5–29%)12
HP:0000027Azoospermia
HP:0000028Cryptorchidism
HP:0000037Male pseudohermaphroditism
HP:0000808Penoscrotal hypospadias
HP:0001007Hirsutism
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0008730Female external genitalia in individual with 46,XY karyotype
HP:0008734Decreased testicular size
HP:0012412Premature adrenarche
HP:0012768Neonatal asphyxia
HP:0012881Abnormality of the labia majora
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 68 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)