Table 2 Characteristics and genetic variation(s) of both index cases and relatives with AIP mutations.
FIPA type ( index number) | Homogeneous (6) | Heterogeneous (12) | Heterogeneous (13) | |||
|---|---|---|---|---|---|---|
Cases | Index | Relative (Brother) | Index | Relative (Daughter) | Index | Relative (Sister) |
Sex (F/M) / Age at diagnosis (yrs) | F/43 | M/35 | M/37 | F/29 | M/27 | F/21 |
Complaint(s) | Hand-foot enlargement | Hand-foot enlargement | Headache | Secondary amenorrhea, Galactorrhea | Hand-foot enlargement | Severe headache (apoplectic event) |
Phenotype | Acral | Acral | Acral | Only the nose looks a little wide *** | Acral | No feature |
GH (ng/ml) IGF-1 (ng/ml, range) PRL (ng/ml) | 4.2 454 (93–345) 6.4 | NA | 6.4 800 (94–210) 21.7 | 7.2 374 (117–329) 162 | 3.6 997 (232–385) 1350 | - - 222* |
Size of adenoma (milimeters) Knops | 14 Grade 3 | NA | 23 Grade 4 | 12 Grade 3 | 40 Grade 4 | 25 (hemorrhagic adenoma) Grade 3 |
Diagnosis | Acromegaly | Acromegaly | Acromegaly | Prolactinoma, Clinically silent acromegaly | Acromegaly (mix adenoma) | Prolactinoma |
Treatment modalities Surgery Medical (duration) | Refused SRL + DA (continues) | NA | TCS SRL (156 months) | Refused DA (continues) | 2TSS + TCS SRL + DA (continues) | TSS (apoplexia) DA (12 months) |
Pathology IHCS | - | NA | GH (+) PRL (-) TSH (-) FSH/LH : (-) ACTH (+) | GH 40% (+) PRL 75% (+) TSH (-) FSH/LH : (-) ACTH ( - ) | IHCS could not be performed due to hemorrhagic necrotic elements | |
Follow-up period (months) | 132 | NA | 216 | 23 | 98 | 192 |
Latest hormonal status | Controlled under medication (SRL + DA) | NA | In remission (since 60 months) | DA could not be discontinued due to symptomatic PRL elevation, but IGF1 returned to normal (307 ng/ml) | Controlled under medication (SRL + DA) | In remission (since 180 months) |
Latest residue tissue size (milimeters) | 7 | NA | 9 | Size did not change | 18 | 0 |
Genetic variant(s) | ||||||
AIP | c.910 C > T p.(Arg304Ter) | c.910 C > T p.(Arg304Ter) | Splice acceptor site c.646-1G > C** | Splice acceptor site c.646-1G > C ** | c.241 C > T p.(Arg81Ter) | c.241 C > T p.(Arg81Ter) |
SQSTM1 | c.1001_1003del p.(Gly334del) | c.1001_1003del p.(Gly334del) | - | - | - | - |
LGALS3 | - | - | c.719T > C p.(Ile240Thr) | c.719T > C p.(Ile240Thr) | - | - |
SUFU | - | - | c. 842 C > T p.(Pro281Leu) | c. 842 C > T p.(Pro281Leu) | - | - |
