46,XY difference of sex development due to isolated 17,20-lyase deficiency
ORPHA:90796DiseaseAutosomal recessiveNeonatal
Ассоциированные гены2
Фенотипы (HPO)36
Очень частый (80–99%)24
HP:0000013Hypoplasia of the uterus
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000144Decreased fertility
HP:0000147Polycystic ovaries
HP:0000786Primary amenorrhea
HP:0000815Hypergonadotropic hypogonadism
HP:0000823Delayed puberty
HP:0000939Osteoporosis
HP:0002215Sparse axillary hair
HP:0002225Sparse pubic hair
HP:0002231Sparse body hair
HP:0002750Delayed skeletal maturation
HP:0004349Reduced bone mineral density
HP:0008187Absence of secondary sex characteristics
HP:0008193Primary gonadal insufficiency
HP:0008214Decreased serum estradiol
HP:0008232Elevated circulating follicle stimulating hormone level
HP:0008675Enlarged polycystic ovaries
HP:0011969Elevated circulating luteinizing hormone level
HP:0012112Abnormality of circulating corticosterone level
HP:0030349Decreased circulating androgen level
HP:0040171Decreased serum testosterone concentration
HP:0100607Dysmenorrhea
Частый (30–79%)6
HP:0000028Cryptorchidism
HP:0000868Decreased fertility in females
HP:0004322Short stature
HP:0008726Hypoplasia of the vagina
HP:0008734Decreased testicular size
HP:0012041Decreased fertility in males
Периодический (5–29%)6
HP:0000033Ambiguous genitalia, male
HP:0000037Male pseudohermaphroditism
HP:0000771Gynecomastia
HP:0001508Failure to thrive
HP:0008730Female external genitalia in individual with 46,XY karyotype
HP:0012244Abnormal sex determination
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)