Leydig cell hypoplasia
ORPHA:755DiseaseNeonatal
Фенотипы (HPO)23
Очень частый (80–99%)20
HP:0000026Male hypogonadism
HP:0000028Cryptorchidism
HP:0000037Male pseudohermaphroditism
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000062Ambiguous genitalia
HP:0000118Phenotypic abnormality
HP:0000134Female hypogonadism
HP:0000151Aplasia of the uterus
HP:0000786Primary amenorrhea
HP:0000811Abnormal external genitalia
HP:0000812Abnormal internal genitalia
HP:0000815Hypergonadotropic hypogonadism
HP:0000837Increased circulating gonadotropin level
HP:0002750Delayed skeletal maturation
HP:0008187Absence of secondary sex characteristics
HP:0008193Primary gonadal insufficiency
HP:0010790Hyoplasia of the Leydig cells
HP:0040171Decreased serum testosterone concentration
HP:0100783Breast aplasia
Периодический (5–29%)3
HP:0000030Testicular gonadoblastoma
HP:0000869Secondary amenorrhea
HP:0012872Abnormal vas deferens morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 70 | 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)