Table 2.
Individual data of the boys with PSIS.
| Case | Age at diagnosis years | MRI | Ophthalmic malformations or anomalies | Other malformations or anomalies | Genital anomalies | Puberty | GnRH test | Testosterone nmol/L | Age at inhibin B years | Inhibin B ng/L | HP deficiencies | Last evaluation | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Posterior pituitary | Pituitary stalk | Anterior pituitary height mm | Age years | LH peak IU/L | FSH peak IU/L | Age years | TV mL | ||||||||||
| 1 | 0.1 | Ectopic | Absent | NA | Strabismus, astigmatism, hyperopia | No | a | Absent | 12.0 | 0.2 | 0.6 | <0.24 | 12.0 | 11 | GH, ACTH, TSH, LH/FSH | 13.0 | 2 |
| 2 | 0.1 | Ectopic | Absent | 2.5 | No | No | a | Absent | 12.6 | <0.1 | 0.5 | <0.24 | 12.6 | <16.6 | GH, ACTH, TSH, LH/FSH | 14.0 | 2 |
| 3 | 0.9 | Ectopic | Absent | NA | Bilateral nerve atrophy | Olfactory bulbs aplasia | a | Early puberty | 17.5 | 23.0 | 10.4 | 26.21 | 17.5 | 168 | GH, ACTH, TSH | 19.4 | 10 |
| 4 | 1.3 | Ectopic | Interrupted | 0.5 | Ptosis | Arnold Chiari syndrome | b | Partial | 14.8 | 3.0 | 4.2 | <0.24 | 1.3 | 142 | GH, ACTH, TSH, LH/FSH (partial) | 26.8 | 9 |
| 5 | 2.7 | Ectopic | Normal | 4 | No | No | No | Normal | 12.4 | 8.2 | 4.2 | 1.14 | 12.4 | 125 | GH, TSH | 14.7 | 15 |
| 6 | 2.7 | Ectopic | Absent | 0.5 | No | Cerebellar atrophy | a | Absent | 13.8 | 0.9 | 2.2 | 0.24 | 2.7 | 281 | GH, ACTH, TSH, LH/FSH | 29.3 | 2 |
| 7 | 2.8 | Ectopic | Interrupted | 2 | No | Diabetes mellitus | b | Partial | 15.1 | 3.7 | 8.4 | 0.21 | 2.8 | 94 | GH, ACTH, TSH, LH/FSH (partial) | 15.1 | 6 |
| 8 | 3.1 | Ectopic | Interrupted | 2 | No | No | No | Normal | 3.1 | 3.2 | 4.9 | 0.04 | 3.1 | 98 | GH | 16.3 | 15 |
| 9 | 3.4 | Normal | Absent | 3 | No | Temporal arachnoid cyst | No | Normal | 14.4 | 10.3 | 6.3 | 15.60 | 3.4 | 122 | GH | 19.1 | 15 |
| 10 | 3.5 | Ectopic | Thin | 2 | No | Pharyngeal malformation | No | Early puberty | 11.7 | 16 | 3.2 | 13.52 | 3.6 | 74 | GH | 13.5 | Adult |
| 11 | 3.6 | Ectopic | Interrupted | 2 | No | No | No | Normal | 14.9 | 20.6 | 7.4 | 17.13 | 3.6 | 85 | GH | 14.9 | 15 |
| 12 | 4.0 | Ectopic | Thin | NA | No | No | No | Normal | 14.5 | 6.4 | 3.7 | 0.49 | 4.0 | 395 | GH, TSH | 17.6 | 15 |
| 13 | 4.8 | Ectopic | Absent | 0 | No | Cleft lip and palate | a | Normal | 17.0 | 10.4 | 3.4 | 20.08 | 17.0 | 206 | GH | 17.0 | 15 |
| 14 | 4.9 | Ectopic | Absent | 1 | No | Arnold Chiari syndrome | NA* | Normal | NA | NA | NA | 23.23 | 5.1 | 142 | GH | 15.6 | 15 |
| 15 | 5.1 | Absent | Interrupted | NA | Astigmatism, hyperopia | No | b | Absent | 13.4 | 0.8 | 0.7 | <0.24 | 5.1 | 16 | GH, ACTH, TSH, LH/FSH | 15.4 | 2 |
| 16 | 5.5 | Ectopic | Normal | 3 | No | Hemophilia | No | Normal | NA | NA | NA | NA | 5.5 | 81 | GH | 18.7 | 15 |
| 17 | 5.6 | Ectopic | Thin | 4.3 | No | No | No | Normal | NA | NA | NA | 5.27 | 5.6 | 124 | GH, TSH, ACTH (partial) | 17.5 | 15 |
| 18 | 6.4 | Ectopic | Thin | 4 | No | No | No | Normal | NA | NA | NA | NA | 6.4 | 29 | GH | 15.1 | 15 |
| 19 | 6.7 | Ectopic | Normal | NA | No | Anorectal malformation | b | Normal | 17.8 | 37.2 | 31.2 | 21.81 | 6.5 | 109 | GH | 17.8 | 13 |
| 20 | 7.0 | Ectopic | Interrupted | 4 | No | No | No | Normal | NA | NA | NA | 22.54 (18.4 yr) | 10.4 | 315 | GH | 18.4 | 15 |
| 21 | 10.4 | Ectopic | Absent | 0 | No | No | No | Normal | NA | NA | NA | NA | 10.4 | 158 | GH, TSH | 14.8 | 12 |
NA, not available; a, micropenis; b, cryptorchidism; TV, testicular volume.
*
No micropenis, localization of the testes NA.
Conversion factors to SI units: testosterone 1 ng/mL = 3.47 nmol/L; inhibin B 1 pg/mL = 1 ng/L.