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Adolescent onset of autoimmune polyglandular syndrome type 2
  1. Siobhan A Murphy1,
  2. Fazly Helmi Mohd Din1 and
  3. Michael Joseph O'Grady1,2
  1. 1Department of Paediatrics, Midland Regional Hospital, Mullingar, Westmeath, Ireland
  2. 2Women’s & Children’s Health, University College Dublin, Dublin, Ireland
  1. Correspondence to Professor Michael Joseph O'Grady; michaelogrady{at}physicians.ie

Abstract

An adolescent female was evaluated for fatigue, anorexia and unintentional weight loss of 7 kg. Initial investigations revealed subclinical autoimmune thyroid dysfunction, which progressed to overt hypothyroidism necessitating thyroxine replacement. She had entered early puberty, but this did not appear to be progressing. A high index of suspicion for coexisting endocrinopathies resulted in a diagnosis of Addison’s disease and consequently autoimmune polyglandular syndrome type 2 (Schmidt syndrome). While basal gonadotropins were normal, anti-Mullerian hormone was low and ovarian autoantibodies were positive, consistent with preclinical premature ovarian failure. Glucocorticoid and mineralocorticoid replacement were instituted. Puberty progressed and menarche was subsequently attained. Screening for other autoantibodies was undertaken; however, none are positive to date.

  • Adrenal disorders
  • Thyroid disease

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Footnotes

  • Contributors SAM researched data, wrote the original draft and approved the final draft. FHMD researched data, revised the manuscript and approved the final draft. MJO'G researched data, revised the manuscript and approved the final submitted version.

  • 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.