Clinical and Genetic Mechanisms in Patients with MC2R Deficiency Presenting with Early Puberty
Authors' conclusion
Genetic causes of early puberty were not identified. Elevated ACTH may stimulate kisspeptin neurons, triggering puberty. Close monitoring of these patients for pubertal development is recommended.
Study context
- Population
- Patients with primary adrenal insufficiency (PAI) due to MC2R gene alterations, all with early or precocious puberty, from five unrelated families; MC2R deficiency diagnosed at 1 day to 11 months5 unrelated families
- Participants
- 7 patients
- Exposure
- Boys vs Girls
- Outcome
- Age at puberty onset
Methodological detailsgenetic analysis, All clinical data obtained retrospectively
- Genetic analysis
- All clinical data obtained retrospectively
Main finding
As reported in the abstract
Observational data: associations, not effects.
Further findings
Genetic analysis of MKRN3, DLK1, KISS1 and KISS1R (Sanger sequencing, P2, P4, P6, P7)
- No pathogenic variants found
Tumor markers, adrenal rest or tumors
- Tumor markers negative; no adrenal rest or tumors found
GnRH analog use for rapid puberty
- Used in P2, P3, P6
Final height, below target
- P1
- −2.6 SDS
- P2
- −0.7 SDS
Age at menarche
Years
- P4
- 11
- P5
- 11.3
Original publication
Clinical and Genetic Mechanisms in Patients with MC2R Deficiency Presenting with Early Puberty. Horm Res Paediatr. Published 1 November 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →