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Unusual association of diseases/symptoms
Case report
Pituitary hyperplasia with Sertoli cell-only and 47,XYY syndromes: an uncommon triad
  1. Amelle Geurim Ra1,2,
  2. Paul Jeffrey Evans1,
  3. Anshu Awasthi1 and
  4. Upendram Srinivas-Shankar1
  1. 1Arrowe Park Hospital, Wirral, UK
  2. 2St George's Hospital, London, UK
  1. Correspondence to Dr Amelle Geurim Ra; amelle.ra{at}nhs.net

Abstract

We report the case history of a 32-year-old man with no phenotypical abnormalities who presented with infertility. Semen analysis revealed azoospermia and testicular biopsy confirmed Sertoli cell-only (SCO) syndrome. Karyotyping revealed 47,XYY and pituitary hyperplasia was found on MRI pituitary. In our patient, 47,XYY karyotype is likely to have given rise to SCO syndrome that in turn resulted in pituitary hyperplasia. The patient was evaluated by various members of the multidisciplinary team including the pituitary surgeon, endocrinologist and andrologist. The patient’s partner successfully delivered a healthy baby via in vitro fertilisation with donor sperm. This triad of diagnoses (SCO syndrome, 47,XYY karyotype and pituitary hyperplasia) has not been reported previously. SCO syndrome should be considered in the presence of azoospermia, elevated follicle-stimulating hormone, low inhibin-B and normal testosterone levels. Our case report also highlights the importance of excluding genetic causes of infertility even when the patient has no phenotypical abnormalities.

  • pituitary disorders
  • endocrinology
  • genetics
  • neuroendocrinology

https://doi.org/10.1136/bcr-2019-233100

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    Footnotes

    • Contributors AR and US-S identified and managed the case for this case report. PJE and AA contributed to the management of the patient. AR drafted and wrote the case report. US-S critically revised the case report. PJE and AA also edited the case report. PJE assisted with radiology images and AA assisted with histopathological images.

    • 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.

    • Patient consent for publication Obtained.

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