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IGSF1 deficiency, the most common cause of central hypothyroidism, presents with varied endocrine issues in males and carriers. This study offers clinical management recommendations for IGSF1 mutations.

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Area of Science:

  • Endocrinology
  • Genetics
  • Human Physiology

Background:

  • X-linked IGSF1 deficiency syndrome arises from mutations in the IGSF1 gene.
  • It causes central hypothyroidism, delayed puberty, and other endocrine abnormalities.

Purpose of the Study:

  • To present data from the largest cohort of IGSF1 deficiency patients.
  • To establish clinical management guidelines for IGSF1 deficiency.

Main Methods:

  • Clinical and biochemical data were collected from 69 males and 56 female carriers across 30 families.
  • A standardized clinical protocol was used for patient evaluation.

Main Results:

  • IGSF1 deficiency is linked to central hypothyroidism, variable prolactin deficiency, and pubertal disturbances.
  • Male patients exhibited small thyroid volume and increased waist circumference; female carriers showed delayed menarche and increased waist circumference.

Conclusions:

  • IGSF1 deficiency is the leading genetic cause of central hypothyroidism with diverse clinical features.
  • Recommendations for genetic analysis, endocrine assessment, and patient care are provided.