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Paternally inherited MKRN3 mutations cause central precocious puberty (CPP). This study identifies two novel mutations and questions GnRH analog treatment efficacy in males with CPP, presenting a case of normal adult height without treatment.

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Paternally inherited loss-of-function mutations in the MKRN3 gene are a known cause of central precocious puberty (CPP).
  • This study investigates two independent families with CPP linked to MKRN3 mutations.

Purpose of the Study:

  • To describe the clinical and genetic characteristics of CPP patients with paternally inherited MKRN3 mutations.
  • To report the outcomes of GnRH analog treatment in these patients.

Main Methods:

  • Genetic analysis of the MKRN3 gene in three CPP patients and their family members.
  • Segregation analyses to confirm mutation inheritance.
  • Clinical observation and assessment of treatment response.

Main Results:

  • Two novel heterozygous MKRN3 mutations were identified: p.(Ile313Met) in a Finnish girl and p.(Gly413Thrfs*63) in Polish siblings.
  • GnRH analog treatment suppressed the hypothalamic-pituitary-gonadal axis in the affected girls.
  • A male patient with an MKRN3 mutation achieved his target adult height without GnRH analog treatment.

Conclusions:

  • Two novel MKRN3 mutations are associated with central precocious puberty.
  • The findings question the necessity of GnRH analog treatment for augmenting adult height in males with CPP due to MKRN3 mutations.