Comprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 Patients
Authors' conclusion
(Epi)genetic causes were identified in 12.2% of patients with CPP at our center. For patients with CPP born SGA or together with family histories of paternal early puberty, (epi)genetic testing for TS14 and MKRN3 genetic defects should be considered.
Study context
- Population
- Patients with central precocious puberty (CPP) without history of brain injuries and with negative brain MRI
- Participants
- 90 patients
- Outcome
- Contribution of (epi)genetic abnormalities to CPP
Methodological detailssingle-centre, targeted sequencing, methylation analysis
- Single-centre
- Targeted sequencing
- Methylation analysis
Main finding
As reported in the abstract
Temple syndrome (TS14) (6 epimutation; 1 mosaic maternal uniparental disomy chromosome 14; 1 microdeletion)
8 patients
MKRN3 genetic defects (1 PV; 1 13-bp deletion in 5'-UTR; 1 microdeletion), with family histories of paternal early puberty
3 patients
Pathogenic variants (PVs) in MECP2, KISS1 or KISS1R
0 patients
(Epi)genetic causes identified
12.2%
Observational data: associations, not effects.
Further findings
Serum MKRN3
- Low serum MKRN3 level confirmed in the patient with a deletion in 5'-UTR
Height at initial evaluation
- Median height at initial evaluation of TS14 patients lower than that of all patients
Born small for gestational age (SGA) among TS14 patients
- TS14 patients born SGA
- 6 patients
Original publication
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