Синдром 46,XX дисгенезії яєчників-низькорослості
ORPHA:444048· ICD-10 Q96.8· 46,XX ovarian dysgenesis-short stature syndrome
Визначення(English summary)
A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent