Table 1.
Clinical, hormonal and genetic features of 20 boys from 17 families with idiopathic CPP
| Family No. |
Patient No. |
Origin | Initial clinical manifestation (age, years) |
Time of diagnosis
|
BA years |
LH, IU/l
|
Basal FSH, IU/l |
T, ng/dl |
Hormone assay |
Familial case |
Genetic analysis |
|||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| age years |
genital Tanner stage |
BMI Z-score |
basal | after GnRH |
||||||||||
| I | 1 | Turkey | Penis enlargement and pubarche (2.4) | 3.4 | 2 | 4.0 | 5 | 6.7 | n.a. | 5.9 | 42 | ICMA | No | – |
|
| ||||||||||||||
| II | 2 | Turkey | Penis enlargement (0.9) | 1.4 | 2 | n.a. | 3 | 1.2 | 23.7 | 5.1 | 297 | ICMA | No | – |
|
| ||||||||||||||
| III | 3 | Turkey | Penis enlargement and pubarche (4.0) | 4.2 | 2 | 2.0 | 5 | 6.0 | n.a. | 3.8 | 160 | ECLIA | No | – |
|
| ||||||||||||||
| IV | 4 | Brazil | Testicular enlargement and pubarche (8.0) | 10.1 | 3 | 0.2 | 13 | 0.9 | 8.4 | 2.5 | 68 | IFMA | No | – |
|
| ||||||||||||||
| V | 5 | Brazil | Pubarche (7.0) and testicular enlargement (9.0) | 9.8 | 2 | n.a. | n.a. | 0.7 | 18.0 | 1.0 | 75.7 | IFMA | No | – |
|
| ||||||||||||||
| VI | 6 | Brazil | Testicular enlargement and pubarche (8.0) | 10.4 | 3 | 0.9 | 13 | 2.5 | n.a. | 1.3 | 163 | IFMA | No | – |
|
| ||||||||||||||
| VII | 7 | Brazil | Testicular enlargement (7.0) and pubarche (9.0) | 8.7 | 2 | 0.3 | 8 | 1.2 | 33.4 | 2.5 | 19 | IFMA | No | – |
|
| ||||||||||||||
| VIII | 8 | Brazil | Pubarche (2.0), testicular and penis enlargement (3.0) | 5.1 | 4 | 1.0 | 13 | 1.1 | n.a. | 1.1 | 92 | IFMA | No | – |
|
| ||||||||||||||
| IX | 9 | Brazil | Pubarche and penis enlargement (1.0) | 1.4 | 2 | n.a. | 3 | 11.5 | 47.2 | 8.3 | 600 | RIA | No | KISS1(p.Pro74Ser) |
|
| ||||||||||||||
| X | 10 | Brazil | Testicular enlargement and pubarche (5.9) | 8.1 | 3 | 0.9 | 10 | 1.2 | 6.7 | 1.5 | 116 | ICMA | Yes | MKRN3 (p.Ala162Glyfs*14) |
| 11 | Testicular enlargement and pubarche (unknown) | 9.7 | 3 | 1.4 | 9.7 | 1.6 | 10.9 | 0.8 | 548 | ICMA | ||||
|
| ||||||||||||||
| XI | 12 | Belgium | Testicular enlargement and pubarche (unknown) | 9.7 | 3 | 1.2 | 12 | 2.0 | 19.5 | 4.4 | 67 | ICMA | Yes | MKRN3 (p.Arg365Ser) |
|
| ||||||||||||||
| XII | 13 | USA | Testicular enlargement and pubarche (8.5) | 8.8 | 3 | n.a. | 11.5 | 4.1 | n.a. | 3.1 | 216 | ICMA | Yes | MKRN3 (p.Ala162Glyfs*14) |
|
| ||||||||||||||
| XIII | 14 | USA | Testicular enlargement (8.0) | 8.7 | 3 | 2.2 | 11 | 2.9 | 20.0 | 2.5 | 78 | ICMA | Yes | MKRN3 (p.Arg213Glyfs*73) |
|
| ||||||||||||||
| XIV | 15 | Argentina | Testicular enlargement (7.5) | 8.4 | 3 | 1.18 | 10 | 1.1 | 10.2 | 1.5 | 466 | ICMA | Yes | MKRN3 (p.Arg328Cys) |
| 16 | Testicular enlargement (8.5) | 9.8 | 3 | 0.19 | 11 | 1.4 | n.a. | 2.4 | 200 | ICMA | ||||
| 17 | Testicular enlargement (8.6) | 8.6 | 2 | 0.14 | 9 | 0.7 | n.a. | 1.2 | <10 | ICMA | ||||
|
| ||||||||||||||
| XV | 18 | Greece | Pubarche and testicular enlargement (unknown) | 9.5 | 3 | 2.4 | 12 | 4.7 | 21.5 | 5.5 | 40.9 | ECLIA | No | – |
|
| ||||||||||||||
| XVI | 19 | Greece | Pubarche and testicular enlargement (7.8) | 8.8 | 2 | 1.7 | 10.5 | 1.2 | 14.2 | 1.9 | 27.7 | ECLIA | Yes | – |
|
| ||||||||||||||
| XVII | 20 | Greece | Pubarche and testicular enlargement (8.0) | 10 | 4 | 1.7 | 13 | 1.5 | 17.5 | 0.7 | 243 | ECLIA | No | – |
BA = Bone age; T = testosterone; n.a. = not available.