Table 3.
Reported data related to genetic factors and various disorders associated with precocious or early puberty.
| Gene, chromosomal abnormality or clinical association | Primary findings | Authors (Ref) |
|---|---|---|
| GENES | ||
| KISS1 or KISS1R (GPR54) | CPP and autosomal dominant GPR54 mutation (p.A386P) (1 girl) CPP and KISS1 mutations: p.P74S mutation in a heterozygous state (1 boy) and pPH90D in a homozygous state (2 unrelated girls) |
Teles et al. (18) Silveira et al. (19) |
| TAC3 | CPP caused by a heterozygous mutation p.A63P (1 girl) | Tusset et al. (20) |
| MKRN3 | CPP caused by mutations in the imprinted gene MRKN3; paternally inherited | Abreu et al. (21) Macedo et al. (22) |
| CHROMOSOMAL ABNORMALITIES | ||
| Deletion of 9p | CPP and mental retardation, dysmorphy (2 girls, 1 boy) | Funderburk, (23) Eshel et al. (24) Cisternino et al. (25) |
| 1p36 deletion syndrome | CPP and mental retardation, epilepsy, growth delay, congenital heart defects, characteristic facial appearance (1 girl) | Kurosawa et al. (26) |
| 46XX/69XXX mixoploidy | CPP and central hypothyroidism (1 girl aged 5 months) | Jäverlä et al. (27) |
| Triple X syndromeDuplication of chromosome 15Duplication of chromosome 9 | CPP and mental retardation in all patients (2 girls, 1 boy) | Grosso et al. (28) |
| Inv dup (15) syndrome | CPP and mental retardation, epilepsy, behavioral problems, malformations (2 girls of 10 patients) | Grosso et al. (29) |
| Maternal uniparental disomy for chromosome 14 | CPP and growth retardation, hypotonia, scoliosis (1 boy) | Temple et al. (30) |
| SYNDROMES AND/OR MEDICAL ASSOCIATIONS | ||
| Prader-Willi syndrome | CPP in patients with Prader-Willi syndrome (1 boy) and growth hormone deficiency (1 boy), treated with GnRH (1 girl), and growth hormone (1 girl) | Vanelli et al. (31) Pusz et Rotenstein, (32) Crino et al. (33) Lee et Hwang, (34) |
| Kabuki syndrome | CPP and lower lip pits (1 patient) or epilepsy, polymicrogyria, and nephrotic syndrome (1 girl) | Franceschini et al. (35) Di Gennaro et al. (36) |
| Epidermal nevus syndrome | CPP and epidermal nevus syndrome (1) and hypophosphatemic vitamin D-resistant rickets (1 girl) | Tay et al. (37) Ivker et al. (38) |
| Cohen syndrome | CPP in identical female twins | North et al. (39) |
| Williams syndrome (WS) | CPP in 18.3% of girls (of 171 girls) | Partsch et al. (40) |
| Angelman syndrome (AS) | Premature thelarche (2 girls) | Young et al. (41) Katzos et al. (42) |
| Aicardi syndrome | CPP in 42% of the girls | Glasmacher et al. (43) |
| Floating-Harbor syndrome (FHS) | CPP and growth hormone deficiency | Stagi et al. (44) |
| Cardio-facio-cutaneous syndrome | CPP in 1 case | Celik et al. (45) |
| PEHO syndrome | CPP and progressive encephalopathy, hypsarrhythmia, and optic atrophy syndrome | Alfadhel et al. (46) |
| Lipofuscinosis | CPP in a girl with late infantile form | Aysun et al. (47) |
| Dravet syndrome | CPP and deletion involving SCN1A and SMEI (1 girl) | Madia et al. (48) |
| Rett syndrome | CPP and deceleration of head growth, hypotonia, respiratory alkalosis (1 girl) | Bas et al. (49) Holm, (50) |
| Neonatal encephalopathy | Early puberty in 7 (4.2%) of 161 girls | Robertson et al. (51) |
| NRXN1 deletion | CPP and early onset developmental delay, epilepsy, gastroesophageal reflux (2 sisters) | Harrison et al. (52) |
| Neurological disorders | Electroencephalographic tracing abnormalities in 81% of patients with CPP | Liu et al. (53) |
| Epilepsy | CPP and dysmorphy, hypotonia, and seizures; 3 siblings | Smith et al. (54) |