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Endocrine system involvement in patients with RASopathies: A case series.

M A Siano1, R Pivonello2, M Salerno3

  • 1Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Università di Salerno, Salerno, Italy.

Frontiers in Endocrinology
|December 9, 2022
PubMed
Summary
This summary is machine-generated.

RASopathies, including Noonan syndrome and cardiofaciocutaneous syndrome, frequently cause endocrine issues. This study found high rates of thyroid autoimmunity and reduced bone density, indicating a need for proactive monitoring and management in affected individuals.

Keywords:
CFCRASopathiesautoimmunitybone mineral densityvitamin D

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • RASopathies are genetic disorders associated with various clinical features.
  • Endocrine complications are known but not systematically studied in RASopathies.
  • This study addresses the need for a comprehensive assessment of endocrine disorders in RASopathy patients.

Purpose of the Study:

  • To investigate the prevalence and spectrum of endocrine disorders in a cohort of patients with RASopathies.
  • To assess thyroid function, pubertal development, auxological parameters, adrenal function, and bone metabolism.
  • To identify potential implications for clinical management and patient follow-up.

Main Methods:

  • A consecutive, unselected cohort of 72 patients with genetically confirmed RASopathies (Noonan syndrome, LEOPARD syndrome, cardiofaciocutaneous syndrome) was studied.
  • An age- and sex-matched healthy control group was included for comparison.
  • Endocrine assessments included thyroid function tests, auxological measurements, pubertal evaluation, adrenal function tests, and bone mineral density (BMD) measurements via DXA.

Main Results:

  • Short stature was prevalent (40% in Noonan syndrome, 64% in CFCS).
  • Patients exhibited lower Z-scores at DXA, lower Vitamin D and Calcitonin levels, and higher Parathormone levels compared to controls.
  • Significantly higher anti-TPO antibody levels indicated increased thyroid autoimmunity in RASopathy patients.

Conclusions:

  • There is a high prevalence of thyroid autoimmunity in Noonan syndrome and cardiofaciocutaneous syndrome, suggesting an increased risk for autoimmune disorders.
  • Reduced bone mineral density (BMD) was observed, potentially linked to decreased physical activity and inflammatory cytokines.
  • These findings highlight the importance of monitoring and preventing bone metabolism issues like osteopenia and osteoporosis in patients with NS and CFCS.