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Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus
  1. Stephanie Lenet1,2 and
  2. Constantin Polychronakos3,4
  1. 1 Department of Pediatrics, University of Sherbrooke, Sherbrooke, Quebec, Canada
  2. 2 Fleurimont Hospital, Sherbrooke, Quebec, Canada
  3. 3 McGill University Health Centre, Montreal, Quebec, Canada
  4. 4 Department of Paediatric Endocrinology, Montreal Children’s Hospital, Montreal, Quebec, Canada
  1. Correspondence to Dr Stephanie Lenet, stephanie.lenet{at}


A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures. He was incidentally found to have advanced Tanner staging on physical examination. Hormonal testing revealed pubertal levels of gonadotropins and sex steroid hormones. On brain imaging, a lack of visualisation of the posterior pituitary bright spot was observed, in addition to mild thinning of the corpus callosum and the lateral gyri of the cerebellar hemispheres. A diagnosis of idiopathic central precocious puberty was made and the patient was started on leuprolide depot treatment. Pituitary hormone testing revealed hyperprolactinemia for which the patient did not receive treatment as he was asymptomatic. During a subsequent hospital admission for seizures, the patient was diagnosed with transient central diabetes insipidus for which he required treatment with a desmopressin infusion.

  • pituitary disorders
  • genetics
  • endocrine system
  • endocrinology
  • congenital disorders
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  • Contributors Both SL and CP fulfilled the criteria for authorship. Both the authors contributed to the planning of the article, acquisition and interpretation of the clinical information, and to the writing of the manuscript. SL also performed the literature review.

  • 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.

  • Competing interests None declared.

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

  • Patient consent for publication Parental/guardian consent obtained.

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