46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
ORPHA:168558DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)51
Очень частый (80–99%)44
HP:0000028Cryptorchidism
HP:0000033Ambiguous genitalia, male
HP:0000037Male pseudohermaphroditism
HP:0000127Renal salt wasting
HP:0000144Decreased fertility
HP:0000151Aplasia of the uterus
HP:0000771Gynecomastia
HP:0000823Delayed puberty
HP:0000848Increased circulating renin level
HP:0000939Osteoporosis
HP:0001197Abnormality of prenatal development or birth
HP:0001274Agenesis of corpus callosum
HP:0001508Failure to thrive
HP:0001941Acidosis
HP:0001944Dehydration
HP:0001998Neonatal hypoglycemia
HP:0002013Vomiting
HP:0002153Hyperkalemia
HP:0002615Hypotension
HP:0002750Delayed skeletal maturation
HP:0002902Hyponatremia
HP:0003107Abnormality of cholesterol metabolism
HP:0003154Increased circulating ACTH level
HP:0004319Decreased circulating aldosterone level
HP:0004349Reduced bone mineral density
HP:0007440Generalized hyperpigmentation
HP:0007574Generalized bronze hyperpigmentation
HP:0008073Low maternal serum estriol
HP:0008163Decreased circulating cortisol level
HP:0008187Absence of secondary sex characteristics
HP:0008207Primary adrenal insufficiency
HP:0008730Female external genitalia in individual with 46,XY karyotype
HP:0008734Decreased testicular size
HP:0010789Abnormality of the Leydig cells
HP:0011106Hypovolemia
HP:0011749Adrenocorticotropic hormone excess
HP:0011968Feeding difficulties
HP:0012244Abnormal sex determination
HP:0012245Sex reversal
HP:0012598Abnormal urine potassium concentration
HP:0012605Hypernatriuria
HP:0030349Decreased circulating androgen level
HP:0030369Induced vaginal delivery
HP:0100779Urogenital sinus anomaly
Частый (30–79%)4
HP:0000835Adrenal hypoplasia
HP:0001622Premature birth
HP:0008232Elevated circulating follicle stimulating hormone level
HP:0011969Elevated circulating luteinizing hormone level
Периодический (5–29%)3
HP:0000142Abnormality of the vagina
HP:0008665Clitoral hypertrophy
HP:0012854Midshaft hypospadias
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)