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Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency

  • Elaine C. Kennedy , Maria Stack , Eirin Carolan , Maeve Durkan , Caroline M. Joyce ORCID logo and Colin P. Hawkes EMAIL logo
Published/Copyright: September 20, 2024
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 12

Abstract

Objectives

Congenital adrenal hyperplasia (CAH) is an uncommon genetic disorder which affects cortisol production in the adrenal glands. It is usually treated with glucocorticoids. We present a case of non-classical CAH caused by the partial deficiency of 11 beta-hydroxylase (11βOH) which was treated with aldosterone antagonist (eplerenone) monotherapy.

Case presentation

An adolescent male was diagnosed with 11 beta-hydroxylase deficiency (11βOHD) at 13 years of age when he presented with hypertension, fatigue and headaches. He was initially treated with glucocorticoids, but requested an alternative therapy. Eplerenone was commenced at 25 mg with subsequent dose increases to 100 mg daily. His hypertension was controlled on this regimen, achieving a 24 h average blood pressure of 124/81 mmHg.

Conclusions

CAH caused by 11βOHD is a known cause of hypertension. It is usually managed with glucocorticoids, and antihypertensives are added if blood pressure remains uncontrolled. In this case, glucocorticoid therapy was not tolerated and treatment with aldosterone antagonist monotherapy was effective in controlling his hypertension.

Keywords: congenital adrenal hyperplasia; eplerenone; 11 beta-hydroxylase deficiency; 11-deoxycortisol
Corresponding author: Colin P. Hawkes, MD, PhD, INFANT Research Centre, University College Cork, Cork, Ireland; Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland; and Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA, E-mail:
Disclosure Summary: ECK, MS, EC, MD, CMJ and CPH have no financial relationships relevant to this article to disclose.

Acknowledgments

The authors are grateful to the patient involved and his family for consenting for this case to be presented for educational purposes.

  1. Research ethics: Not applicable.

  2. Informed consent: Informed consent was obtained from the patient and his family.

  3. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  4. Use of Large Language Models, AI and Machine Learning Tools: None declared.

  5. Competing interests: The authors state no conflict of interest.

  6. Research funding: This work was supported by the INFANT Research Centre.

  7. Data availability: Not applicable.

References

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Received: 2024-05-01
Accepted: 2024-08-29
Published Online: 2024-09-20
Published in Print: 2024-12-17

© 2024 Walter de Gruyter GmbH, Berlin/Boston

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  8. Hsa_circ_0002473 inhibits GH3 cell proliferation and GH secretion as a competitive endogenous RNA for has-miR-4645-3p
  9. Through the eyes of the parents: a transdiagnostic psychiatric perspective for children with differences of sexual development
  10. Experiences and psychological issues affecting parents of children born with atypical genitalia in India
  11. Case Reports
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  14. Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female
  15. Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency
  16. A rare case of skeletal dysplasia: biallelic variant in ACAN gene
  17. Letter to the Editor
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  19. Annual Reviewer Acknowledgment
  20. Reviewer Acknowledgment
https://doi.org/10.1515/jpem-2024-0194
Keywords for this article
congenital adrenal hyperplasia; eplerenone; 11 beta-hydroxylase deficiency; 11-deoxycortisol

Articles in the same Issue

  1. Frontmatter
  2. Review
  3. Effect and safety of aromatase inhibitors for the treatment of short stature in male children and adolescents: a meta-analysis of randomized controlled trials
  4. Original Articles
  5. Do hybrid closed loop insulin pump systems improve glycemic control and reduce hospitalizations in poorly controlled type 1 diabetes?
  6. Long-term effectiveness and safety of long-acting growth hormone preparation in children with growth hormone deficiency
  7. Gonadal changes in children and adolescents with congenital adrenal hyperplasia
  8. Hsa_circ_0002473 inhibits GH3 cell proliferation and GH secretion as a competitive endogenous RNA for has-miR-4645-3p
  9. Through the eyes of the parents: a transdiagnostic psychiatric perspective for children with differences of sexual development
  10. Experiences and psychological issues affecting parents of children born with atypical genitalia in India
  11. Case Reports
  12. A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita
  13. Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report
  14. Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female
  15. Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency
  16. A rare case of skeletal dysplasia: biallelic variant in ACAN gene
  17. Letter to the Editor
  18. Another look at the necessity of polysomnography for infants with Prader-Willi syndrome prior to initiation of growth hormone therapy
  19. Annual Reviewer Acknowledgment
  20. Reviewer Acknowledgment
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