202110.1

United Arab Emirates

Absence of secondary sex characteristics; Primary amenorrhea; Hypertension

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000102.4:c.287G>A	2		Adrenal Hyperplasia, Congenital, due to 17-Alpha-Hydroxylase Deficiency

The patient had 3 younger sisters with a similar presentation