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Paediatrics
Pseudoprecocious puberty and gynaecomastia as presenting features of Peutz-Jeghers syndrome
  1. Karen J Kelleher1,
  2. Sinead Glackin2,
  3. Jennifer J Brady3,4 and
  4. Susan M O'Connell1,5
  1. 1 Diabetes and Endocrinology, Children's Health Ireland at Crumlin, Dublin 12, Ireland
  2. 2 Paediatrics Department, Sligo University Hospital, Sligo, Ireland
  3. 3 Biochemistry, Children's Health Ireland at Crumlin, Crumlin, Dublin, Ireland
  4. 4 School of Medicine, University College Dublin, Dublin 4, Ireland
  5. 5 Paediatrics and Child Health, RSCI Royal College of Surgeons in Ireland, Dublin 2, Ireland
  1. Correspondence to Dr Karen J Kelleher; mooneykk{at}tcd.ie

Abstract

A boy in mid-childhood presented with right-sided gynaecomastia, which was excised. He represented and, on review by endocrinology, Tanner staging showed stage 2 left-sided glandular breast tissue and some features of virilisation. His testicular volumes remained prepubertal (3 mL). Testicular ultrasound demonstrated irregular echogenic foci bilaterally, and mucosal freckling was noted. A genetic panel confirmed a de novo STK11 variant, pathogenic for Peutz-Jeghers syndrome (PJS). Aromatase inhibition was chosen in preference to left-sided mastectomy. His growth velocity and bone age stabilised, and left-sided breast budding reduced in size. He continues to have a good cosmetic outcome with preserved height potential 5 years later. In this case, to date, treatment with an aromatase inhibitor has negated the need for further surgery. Pseudopuberty in boys with PJS can lead to a diagnostic and treatment challenge. We present a recent case and review the evolving treatment standards and diagnostic strategies.

  • Endocrine system
  • Paediatrics (drugs and medicines)
  • Drugs: endocrine system
  • Gynecomastia

https://doi.org/10.1136/bcr-2024-262022

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    Footnotes

    • X @KarenKelleher

    • Contributors The following authors were responsible for drafting the text, sourcing and editing clinical images and investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: KJK and SMO'C. The following authors gave the final approval of the manuscript: SMO'C, JJB, SG and KJK. SMO'C is the guarantor.

    • 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.