J Endocrinol Metab

Journal of Endocrinology and Metabolism, ISSN 1923-2861 print, 1923-287X online, Open Access

Article copyright, the authors; Journal compilation copyright, J Endocrinol Metab and Elmer Press Inc

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Short Communication

Volume 15, Number 5, December 2025, pages 220-226

Altered CTLA-4 Expression and Genetic Variation Drive Autoimmune Susceptibility in Turner Syndrome

Figure 1. Differential CTLA-4 gene expression in TS: (a) patients TS vs. HCs (-19.38 FC; P < 0.001); (b) comparative analysis of patients with AIDs and/or CIDs (case group) versus TS without such conditions (control group) (-1.0207 FC; P = 0.8413). AID: autoimmune disease; CID: chronic inflammatory disease; FC: fold change; HC: healthy control; TS: Turner syndrome.

**Table 1.** Clinical Features of Patients With Turner Syndrome
Clinical characteristics	N (%)
^aAbsence of breast development, absence of axillary and pubic hair, hypoplastic uterus, and absence of ovaries.^bThe main clinical conditions are cubitus valgus, xiphoid depression, short metacarpals, and genu valgus.
Short stature	86 (76.79)
Sexual infantilism	83^a (74.11)
Skeletal abnormalities	50^b (44.64)
Short and webbed neck	44 (39.29)
Primary amenorrhea	43 (38.39)
Low posterior hairline	32 (28.57)
Mammary hypertelorism	29 (25.89)
Edema	27 (24.11)
Autoimmune thyroid disease	23 (20.54)
Inflammatory disease	22 (19.64)
Cardiovascular disease	22 (19.64)
Neurological disease	20 (17.86)
Skin redundancy in the neck	19 (16.96)
Ear malformations	18 (16.07)
Skin diseases	18 (16.07)
Arched palate	17 (15.18)
Obesity/overweight	14 (12.5)
Eyes anatomic alterations	13 (11.61)
Osteopenia/osteoporosis	11 (9.82)
Renal malformations	10 (8.93)
Hearing deficiency	10 (8.93)
Dyslipidemia	6 (5.36)
Muscle hypotonia	3 (2.68)
Alopecia	2 (1.78)

Table 1. Clinical Features of Patients With Turner Syndrome

Clinical characteristics

N (%)

^aAbsence of breast development, absence of axillary and pubic hair, hypoplastic uterus, and absence of ovaries.^bThe main clinical conditions are cubitus valgus, xiphoid depression, short metacarpals, and genu valgus.

Short stature

86 (76.79)

Sexual infantilism

83^a (74.11)

Skeletal abnormalities

50^b (44.64)

Short and webbed neck

44 (39.29)

Primary amenorrhea

43 (38.39)

Low posterior hairline

32 (28.57)

Mammary hypertelorism

29 (25.89)

Edema

27 (24.11)

Autoimmune thyroid disease

23 (20.54)

Inflammatory disease

22 (19.64)

Cardiovascular disease

22 (19.64)

Neurological disease

20 (17.86)

Skin redundancy in the neck

19 (16.96)

Ear malformations

18 (16.07)

Skin diseases

18 (16.07)

Arched palate

17 (15.18)

Obesity/overweight

14 (12.5)

Eyes anatomic alterations

13 (11.61)

Osteopenia/osteoporosis

11 (9.82)

Renal malformations

10 (8.93)

Hearing deficiency

10 (8.93)

Dyslipidemia

6 (5.36)

Muscle hypotonia

3 (2.68)

Alopecia

2 (1.78)

**Table 2.** Genotype and Allele Distribution of *CTLA-4* Gene Polymorphism in TS Patients With AIDs (Case Group), TS Patients With CIDs (Case Group), and TS Patients (Control Group)
Polymorphism rs3087243	Case group, N (%)	Control group, N (%)	Odds ratio (95% CI)	P-value
Results are expressed in absolute value (relative value). AID: autoimmune disease; CI: confidence interval; CID: chronic inflammatory disease; TS: Turner syndrome.
TS with AIDs
Allele	48	176
G	26 (0.54)	66 (0.38)
A	22 (0.46)	110 (0.62)	0.51 (0.25 - 1.02)	0.047
Genotype	24	88
GG	12 (50)	28 (31.8)
GA	2 (8.3)	10 (11.4)	0.473 (0.04 - 2.75)	0.475
AA	10 (41.7)	50 (56.8)	0.47 (0.16 - 1.36)	0.142
TS with CIDs
Allele	44	180
G	16 (0.36)	76 (0.42)
A	28 (0.64)	104 (0.58)	1.28 (0.61 - 2.72)	0.5
Genotype	22	90
GG	6 (27.3)	34 (37.8)
GA	4 (18.2)	8 (8.9)	2.77 (0.46 - 15.31)	0.21
AA	12 (54.5)	48 (53.3)	1.41 (0.44 - 5.06)	0.6

Table 2. Genotype and Allele Distribution of CTLA-4 Gene Polymorphism in TS Patients With AIDs (Case Group), TS Patients With CIDs (Case Group), and TS Patients (Control Group)

Polymorphism rs3087243

Case group, N (%)

Control group, N (%)

Odds ratio (95% CI)

P-value

Results are expressed in absolute value (relative value). AID: autoimmune disease; CI: confidence interval; CID: chronic inflammatory disease; TS: Turner syndrome.

TS with AIDs

Allele

176

26 (0.54)

66 (0.38)

22 (0.46)

110 (0.62)

0.51 (0.25 - 1.02)

0.047

Genotype

12 (50)

28 (31.8)

2 (8.3)

10 (11.4)

0.473 (0.04 - 2.75)

0.475

10 (41.7)

50 (56.8)

0.47 (0.16 - 1.36)

0.142

TS with CIDs

Allele

180

16 (0.36)

76 (0.42)

28 (0.64)

104 (0.58)

1.28 (0.61 - 2.72)

0.5

Genotype

6 (27.3)

34 (37.8)

4 (18.2)

8 (8.9)

2.77 (0.46 - 15.31)

0.21

12 (54.5)

48 (53.3)

1.41 (0.44 - 5.06)

0.6

**Table 3.** Genotype and Allele Distribution of *CTLA-4* Gene Polymorphism in TS Patients and Healthy Control Group [15]
Polymorphism rs3087243	Case group, N (%)	Control group, N (%)	Odds ratio (95% CI)	P-value
Results are expressed in absolute value (relative value). CI: confidence interval; TS: Turner syndrome.
Allele	224	482
G	92 (0.41)	229 (0.48)
A	132 (0.59)	253 (0.52)	1.3 (0.93-1.81)	0.12
Genotype	112	241
GG	40 (35.7)	55 (22.8)
GA	12 (10.7)	119 (49.4)	0.14 (0.06-0.3)	< 0.0001
AA	60 (53.6)	67 (27.8)	1.23 (0.7-2.18)	0.5

Table 3. Genotype and Allele Distribution of CTLA-4 Gene Polymorphism in TS Patients and Healthy Control Group [15]

Polymorphism rs3087243

Case group, N (%)

Control group, N (%)

Odds ratio (95% CI)

P-value

Results are expressed in absolute value (relative value). CI: confidence interval; TS: Turner syndrome.

Allele

224

482

92 (0.41)

229 (0.48)

132 (0.59)

253 (0.52)

1.3 (0.93-1.81)

0.12

Genotype

112

241

40 (35.7)

55 (22.8)

12 (10.7)

119 (49.4)

0.14 (0.06-0.3)

< 0.0001

60 (53.6)

67 (27.8)

1.23 (0.7-2.18)

0.5