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  • Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency

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Case Reports: Rare disease
Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency
  1. Binh Thanh Le1,
  2. Cuong Minh Duong2,
  3. Tien Quoc Nguyen1 and
  4. Chau Minh Nguyen3
  1. 1Department of Nephro-endocrinology, City Children’s Hospital, Ho Chi Minh City, Viet Nam
  2. 2School of Population Health, University of New South Wales Faculty of Medicine, Sydney, New South Wales, Australia
  3. 3Department of Pediatrics, Pham Ngoc Thach University of Medicine, Ho Chi Minh, Viet Nam
  1. Correspondence to Dr Cuong Minh Duong; minh.duong{at}unsw.edu.au

Abstract

P450scc deficiency due to CYP11A1 gene mutations is a rare cause of primary adrenal insufficiency (PAI) in children. We reported two young siblings with PAI presented with hyperpigmentation. They were referred to our clinic with a diagnosis of familial glucocorticoid deficiency (FGD), another rare cause of PAI. However, further hormonal evaluation revealed increased plasma renin activity, which was not congruent with the diagnosis of FGD. Genetic analysis showed the compound heterozygous mutations in exon 8 of the CYP11A1 gene, including a missense mutation, R466W (c1396C>T), and a nonsense mutation, R439X (c1315C>T). A case responded well to hydrocortisone, while another case received prednisolone due to her unresponsiveness to hydrocortisone. To correctly diagnose P450scc deficiency, physicians should be alerted with the similarity between this disease and FGD because of their predominant glucocorticoid deficiency. Long-acting glucocorticoids may be used with caution to reach treatment goals.

  • Endocrine system
  • Paediatrics (drugs and medicines)
  • Genetics

http://dx.doi.org/10.1136/bcr-2022-250238

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    Footnotes

    • BTL and CMD are joint first authors.

    • Contributors Supervised by CMD. The patient was under the care of BTL. Report was written by BTL, CMD, TQN and MCN.

    • 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.