RT Journal Article
SR Electronic
T1 Adrenal hypoplasia congenita in identical twins
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 87
OP 92
DO 10.15537/smj.2019.1.23337
VO 40
IS 1
A1 Alia M. Al Amer
A1 Khloud M. Al Rubaya
A1 Ali S. Alzahrani
YR 2019
UL http://smj.org.sa/content/40/1/87.abstract
AB We are presenting a monozygotic twin brothers presented at different ages with different presentations. Twin-A presented at age of 18 days with salt losing crisis. Investigations revealed high plasma renin with low-normal aldosterone. Adrenocorticotropic hormone stimulation test revealed low 17-OH progesterone at 0 and 60 minutes. Adrenocorticotropic hormone level and serum cortisol were normal, which excluded initial impression of congenital adrenal hyperplasia. He was diagnosed to have isolated primary hypoaldosteronism. At age of 18 months, he was noticed to have hyperpigmentation of lips and gum. Adrenal failure was suspected, and hydrocortisone was added. Twin-B presented at 9 years and 6 months of age with adrenal crisis. Both were having unilateral undescended testis. Adrenal hypoplasia congenita (AHC) was suspected after his twin’s presentation. Molecular analysis for gene study for both of them revealed adrenal insufficiency, NR0B1 (DAX1) gene mutation. In conclusion, gene analysis is important for the diagnosis of AHC and for genetic counseling.