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.