Published online Nov 16, 2021. doi: 10.12998/wjcc.v9.i32.10018
Peer-review started: July 1, 2021
First decision: July 16, 2021
Revised: July 21, 2021
Accepted: September 10, 2021
Article in press: September 10, 2021
Published online: November 16, 2021
Caused by premature activation of the hypothalamic-pituitary-gonadal axis, there is increasing incidence of central precocious puberty (CPP), especially in girls. Makorin ring finger protein 3 (MKRN3), a maternal imprinted gene with a highly conserved sequence, is the most common genetic etiology associated with CPP. Approximately 50 different mutations in MKRN3 have been found in CPP.
This case report involves identical twin sisters presenting with premature thelarche at the age of 6 years. The left hand bone age of both patients revealed advanced age (9 years). Pelvic B ultrasound indicated enlargement of the ovaries. Luteinizing hormone (LH) releasing hormone testing confirmed CPP. Whole-exome sequencing detected the c.841C>T mutation in MKRN3, leading to a single base substitution, in the twins. This mutation was inherited from the father and paternal grandmother. After 3 mo of treatment with a gonadotropin-releasing hormone analog, levels of LH, follicle-stimulating hormone, and estradiol in the proband’s sister returned to normal levels.
Here, we report a rare mutation (c.841C>T) in MKRN3 in identical twin sisters with CPP.
Core Tip: This report discusses the diagnosis and treatment of central precocious puberty caused by a new Makorin ring finger protein 3 gene mutation and includes a detailed clinical and laboratory analysis of the pathogenic principle, which provided the diagnosis and led to the treatment of central precocious puberty.