Ізольований вроджений гіпогонадотропний гіпогонадизм
ORPHA:238666· ICD-10 E23.0· Isolated congenital hypogonadotropic hypogonadism
Визначення(English summary)
A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome).
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant, Autosomal recessive, Oligogenic, Unknown, X-linked recessive
- Вік початку
- Adolescent, Infancy, Neonatal