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  • Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?

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Case Reports: Learning from unexpected outcome (positive or negative)
Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?
  1. Valentina Gasco1,
  2. Patrizia Matarazzo2,
  3. Luisa De Sanctis2 and
  4. Ezio Ghigo1
  1. 1Division of Endocrinology, Diabetes and Metabolism, Department of Medical Science, University of Turin, Turin, Piedmont, Italy
  2. 2Department of Public Health and Pediatrics, University of Turin, Turin, Piedmont, Italy
  1. Correspondence to Dr Valentina Gasco; valentina.gasco{at}unito.it

Abstract

Gene mutations encoding transcription factors, including SOX2, have been associated with growth hormone deficiency (GHD) and abnormal pituitary development. Guidelines on GHD management in the transition period state that patients with genetic-based childhood-onset GHD can skip retesting due to a high likelihood of permanent GHD. We describe a case of septo-optic-dysplasia due to SOX2 mutation characterised by childhood-onset GHD, which showed a normal somatotropic function at the transition period. This case raises the opportunity to retest for GHD during the transition period, even in patients with a known genetic cause, in order to avoid inappropriate GH treatment.

  • Pituitary disorders
  • Congenital disorders

http://dx.doi.org/10.1136/bcr-2022-251897

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    Footnotes

    • Contributors VG wrote the case report. PM, LDS and EG revised the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.