Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ORPHA:90794DiseaseAutosomal recessiveAdolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Фенотипы (HPO)56
Очень частый (80–99%)5
HP:0008163Decreased circulating cortisol level
HP:0030348Increased circulating androgen concentration
HP:0031074Abnormal response to ACTH stimulation test
HP:0031213Elevated circulating 17-hydroxyprogesterone
HP:0031216Increased circulating progesterone
Частый (30–79%)36
HP:0000127Renal salt wasting
HP:0000140Abnormality of the menstrual cycle
HP:0000144Decreased fertility
HP:0000811Abnormal external genitalia
HP:0000841Hyperactive renin-angiotensin system
HP:0000876Oligomenorrhea
HP:0001007Hirsutism
HP:0001061Acne
HP:0001507Growth abnormality
HP:0001508Failure to thrive
HP:0001824Weight loss
HP:0001944Dehydration
HP:0001998Neonatal hypoglycemia
HP:0002013Vomiting
HP:0002153Hyperkalemia
HP:0002615Hypotension
HP:0002902Hyponatremia
HP:0003113Hypochloremia
HP:0003154Increased circulating ACTH level
HP:0003639Elevated urinary epinephrine
HP:0004012Premature fusion of the radial epiphyseal plates
HP:0004319Decreased circulating aldosterone level
HP:0004322Short stature
HP:0005616Accelerated skeletal maturation
HP:0005976Hyperkalemic metabolic acidosis
HP:0008207Primary adrenal insufficiency
HP:0008665Clitoral hypertrophy
HP:0011106Hypovolemia
HP:0011968Feeding difficulties
HP:0012411Premature pubarche
HP:0012417Hypocapnia
HP:0012605Hypernatriuria
HP:0025380Increased circulating androstenedione concentration
HP:0030088Increased serum testosterone level
HP:0031066Abnormal ovarian physiology
HP:0500022Abnormal serum dehydroepiandrosterone level
Периодический (5–29%)15
HP:0000040Long penis
HP:0000044Hypogonadotropic hypogonadism
HP:0000061Ambiguous genitalia, female
HP:0000062Ambiguous genitalia
HP:0000098Tall stature
HP:0000151Aplasia of the uterus
HP:0002292Frontal balding
HP:0005268Spontaneous abortion
HP:0008734Decreased testicular size
HP:0010465Precocious puberty in females
HP:0012412Premature adrenarche
HP:0025451Testicular adrenal rest tumor
HP:0025486Fused labia majora
HP:0031273Shock
HP:0100779Urogenital sinus anomaly
Эпидемиология11
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.4 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.2 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8.7 | Sweden | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.2 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.2 | New Zealand | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.4 | Croatia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.2 | Estonia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.5 | Singapore | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.5 | Switzerland | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)