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Gonadal function in Noonan syndrome.

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Noonan syndrome (NS) is a genetic disorder affecting puberty and fertility. While puberty is often delayed, it usually begins spontaneously, but males may experience testicular insufficiency.

Keywords:
FertilityFertilitéFonction gonadiqueGonadal functionNoonan syndromePubertyPubertéRAS/MAPK signaling pathwaySyndrome de NoonanVoie de signalisation RAS/MAPK

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Area of Science:

  • Genetics and Developmental Biology
  • Endocrinology
  • Reproductive Medicine

Background:

  • Noonan syndrome (NS) is a common genetic disorder linked to RAS/MAPK pathway mutations.
  • NS presents with craniofacial, cardiac, skeletal, and developmental issues, plus cancer predisposition.
  • Hypothalamic-pituitary-gonadal axis abnormalities are reported in NS, but data is limited.

Purpose of the Study:

  • To review and synthesize existing data on gonadal function and puberty in Noonan syndrome.
  • To highlight the scarcity of information regarding adult NS patients and fertility.
  • To emphasize the need for prospective, long-term studies on NS progression in adulthood.

Main Methods:

  • Literature review of published data on Noonan syndrome, focusing on gonadal function and puberty.
  • Analysis of reported effects on hypothalamic-pituitary-gonadal axis and fertility.
  • Identification of knowledge gaps concerning adult NS patient follow-up.

Main Results:

  • Puberty is typically delayed by approximately two years in both sexes but usually initiates spontaneously.
  • Lower fat mass in NS patients may influence pubertal timing.
  • NS females are generally considered fertile, while males often exhibit primary testicular insufficiency affecting Sertoli cell function, with unknown infertility frequency.

Conclusions:

  • Noonan syndrome impacts pubertal timing and male reproductive health.
  • Further research is crucial to understand long-term gonadal function and fertility in adult NS patients.
  • Longitudinal studies are required to clarify disease progression and management in adulthood.