Testicular adrenal rest tumors in x-linked adrenoleukodystrophy patients

1.

TESTICULAR ADRENAL REST TUMORS IN X-LINKED ADRENOLEUKODYSTROPHY PATIENTS
S.Enikeeva, L.Sozaeva, N.Makazan, I.Chugunov, M.Kareva, V.Peterkova
Endocrinology research center
Testicular adrenal rest tumors (TARTs) are benign masses that originate from pluripotent testicular steroidogenic cells and are usually described in patients with congenital
adrenal hyperplasia (CAH). There are only few cases of TARTs in patients with other forms of primary adrenal insufficiency (PAI). Here we describe two clinical cases of TARTs in
patients with X-linked adrenoleukodystrophy (X-ALD).
Patient N, 16 years
Patient G, 9 years
3 years: unconsciousness and vomiting at the high temperature during infectious
disease, progressive skin hyperpigmentation from the age of 1,8 years led to
hormonal evaluation (ACTH 1250 pg/ml, cortisol 9 nmol/l) and PAI diagnosis.
Hydrocortison therapy was prescribed. Fludrocortison added at the age of 4,7 years
8 years: vomiting with weakness and fatigue, progressive skin hyperpigmentation
from the age of 1,5 years led to hormonal evaluation (ACTH 1200 pg/ml, cortisol 46
nmol/l) and PAI diagnosis. Hydrocortison therapy was prescribed. Fludrocortison
added at the age of 9 years.
5 years: the DNA sequencing revealed likely pathogenic genetic variant in the
ABCD1 gene (с.1550 T>C, p.Phe517Ser) and X-ALD was diagnosed.
8,5 years: the DNA sequencing revealed likely pathogenic genetic variant in the
ABCD1 gene (с.346 G>A, p.Gly116Arg) and X-ALD was diagnosed.
During the surveillance median level of ACTH was 602 pg/ml [343; 875]. The
results are shown below
During the surveillance median level of ACTH 695,5 pg/ml [234; 1060]. The results
are shown below
2500
1400
2000
1200
1500
1000
1000
800
600
500
400
0
3 years 5 years 6,5 years 7 years 8 years 9,8 years
ACTH, pg/ml
The upper limit of the reference interval
200
0
8 лет
9 лет
10 лет
АКТГ
6,5 years: scrotal ultrasound revealed areas of reduced echogenicity in the
mediastinum of both testicles, structurally corresponded to TARTs.
email: [email protected]
14 лет
15 лет
16 лет
17 лет
Норма
16 years: scrotum ultrasound revealed focal changes of the both testicles,
that structurally corresponded to TARTs
Endocrinology Research Center