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. 2025 Jul 3;40(33):e204. doi: 10.3346/jkms.2025.40.e204

Table 3. Clinical data of hypogonadism.

Cases 1 2 3 4 5 6 7 8
Disease CHARGE syndrome CHARGE syndrome APDS1 CVID XL-CGD CTLA-4 haplo-insufficiency LRBA def. LRBA def.
IUIS category 2 2 3 3 5 4 4 4
Sex Male Female Female Female Male Female Male Female
Diagnosis age of IEI 12 yr 9 mon 17 yr 2 mon 11 yr 5 yr 6 yr 9 mon 14 yr4 mon 10 yr 8 mon 12 yr 9 mon
Current age 19 yr 6 mon 22 yr 18 yr 8 mon 20 yr 1 mona 23 yr 33 yr 7 mon 20 yr 10 mon 23 yr 3 mon
Age at HCT 13 yr 16 yr 7 mon
Detection age of hypogonadism 14 yr 17 yr 2 mon 16 yr 1 mon 18 yr 1 mon 15 yr 1 mon 18 yr 4 mon 15 yr 11 mon 13 yr 3 mon
Type of hypogonadism Central Central Central Central Central Central Central Central
Height at onset, cm 142.6 160 148.5 148.6 151 152.6 144 133.3
SD −3.8 −0.2 −2.2 −2.6 0 −1.5 −2.6 −3.5
Body weight at onset, kg 36.1 53 38.6 34.6 45.5 35 36.5 25.5
SD −2.4 −0.1 −2.5 −4.3 −1.5 −4.2 −2.1 −2.5
Tanner stage I I II ND I ND II I
Laboratory data
LH, mIU/mL 0.7 0.4 0.4 0.07 1.3 1.9 1 0.4
FSH, mIU/mL 0.6 0.1 1.1 0.43 2.2 1.2 1.5 2.4
Testosterone, ng/mL 0.16 0.12 0.7
Estradiol, pg/mL 29 1 74 11 1
Treatment
Age at initiation 14 yr 6 mon 17 yr 3 mon 16 yr 3 mon 18 yr 1 mon 15 yr 8 mon 19 yr 5 mon Untreated 15 yr 4 mon
Bone age at initiation 12 yr NT 13 yr 6 mon NT 12 yr NT 13 yr
Medication Testosterone Estradiol progesterone Estradiol progesterone Estradiol Testosterone Estradiol progesterone Estradiol progesterone

APDS1 = activated phosphoinositide 3-kinase delta syndrome, CVID = common variable immunodeficiency, XL-CGD = X-linked chronic granulomatous disease, CTLA-4 = cytotoxic T-lymphocyte-associated protein 4, LRBA = lipopolysaccharide-responsive and beige-like anchor protein, def. = deficiency, IUIS = the International Union of Immunological Societies, IEI = inborn errors of immunity, HCT = hematopoietic cell transplantation, SD = standard deviation, ND = not done, LH = luteinizing hormone, FSH = follicle stimulating hormone, NT = not tested.

aExpired.