46,XX ovarian dysgenesis-short stature syndrome
Your Results
Sign InDescription
A rare, genetic disorder 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.
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
5