Pediatric endocrinology through syndromes

Research output: Contribution to journalReview articlepeer-review


In everyday practice, a pediatric endocrinologist will face a variety of different endocrine issues (such as short or tall stature, dysthyroidism, abnormal pubertal timing or impaired glucose metabolism), which relevantly contribute to the global care of a number of syndromic conditions. On the other hand, the presence of endocrine features may assist in the diagnostic process, leading to final diagnosis of a syndromic disorder. The intention of this review is to provide a referenced overview of different genetic syndromes characterized by endocrine features, and to present a possible classification, based on whether the endocrinopathy or the syndrome is typically recognized first. Thus, the first part of the manuscript deals with the most common syndromes associated with endocrine dysfunctions, while the second part describes the conditions by which a syndrome is most frequently diagnosed after an endocrine finding. The aim is to provide a practical overview of the assessment of syndromic patients, so that they can be recognized and managed in an integrated, multidisciplinary fashion.

Original languageEnglish
Article number103614
JournalEuropean Journal of Medical Genetics
Issue number1
Publication statusPublished - Jan 2020


  • Diabetes
  • Puberty
  • Stature
  • Syndrome
  • Thyroid

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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