Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism
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Álvaro Martín-Rivada
Abstract
Background
Aldosterone deficiency (hypoaldosteronism) or aldosterone resistance (pseudohypoaldosteronism) both result in defective aldosterone activity.
Case presentation
A 42-day-old man presented with failure to thrive, hyponatremia, high urine sodium output, severe hyperkalemia and high plasma renin activity and aldosterone levels. NR3C2, SCNN1A, B and G sequencing showed no variants. Exclusive sodium supplementation resulted in clinical stabilization and growth normalization. His younger sibling had similar clinical and laboratory features, except for low-normal aldosterone. Both patients showed compound heterozygous mutations in CYP11B2 (c.C554T/2802pbE1-E2del). The younger patient needed transient fludrocortisone treatment and higher sodium supplementation, recuperating his weight and a normal growth velocity, although below his brother’s and target height (c.10th vs. c.50th).
Conclusions
On a suggestive clinical picture, high aldosterone plasma levels in early infancy do not rule out aldosterone insufficiency and might mislead differential diagnosis with pseudohypoaldosteronism. Therapeutic requests and growth impairment in hypoaldosteronism vary even with a common genetic background.
Acknowledgments
The authors wish to acknowledge Prof. Felix Riepe (Kiel University, Kiel, Germany) for NR3C2 and SCNN1A, B and G sequencing and Prof. Luis A. Pérez-Jurado (Universidad Pompeu Fabra, Barcelona, Spain) for his assistance in the interpretation of whole exome sequencing.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: The authors confirm that there are no financial or other relationships which might lead to a conflict of interest.
Informed consent: The patients’ parents gave informed consent for the publication of the clinical information. The article does not contain data that could potentially lead to the identification of the patients.
Ethical approval: Research involving human subjects complied with all relevant national regulations, institutional policies and is in accordance with the tenets of the Helsinki Declaration (as revised in 2013), and has been approved by the authors’ Institutional Review Board (CEIm: Comité de Ética e Investigación con medicamentos at the Hospital Infantil Universitario Niño Jesús, Madrid, Spain).
References
1. Curnow, KM, Tusie-Luna, MT, Pascoe, L, Natarajan, R, Gu, JL, Nadler, JL, et al. The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Mol Endocrinol 1991;5:1513–22. https://doi.org/10.1210/mend-5-10-1513.Search in Google Scholar PubMed
2. White, PC. Aldosterone synthase deficiency and related disorder. Mol Cell Endocrinol 2004;217:81–7. https://doi.org/10.1016/j.mce.2003.10.013.Search in Google Scholar PubMed
3. Zennaro, MC, Lombès, M. Mineralocorticoid resistance. Trends Endocrinol Metabol 2004;15:264–70. https://doi.org/10.1016/j.tem.2004.06.003.Search in Google Scholar PubMed
4. Ulick, S, Wang, JZ, Morton, DH. The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone. J Clin Endocrinol Metabol 1992;74:1415–20. https://doi.org/10.1210/jcem.74.6.1592889.Search in Google Scholar PubMed
5. Peter, M, Bünger, K, Sólyom, J, Sippell, WG. Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. Eur J Pediatr 1998;157:378–81. https://doi.org/10.1007/s004310050833.Search in Google Scholar PubMed
6. Dunlop, FM, Crock, PA, Montalvo, J, Funder, JW, Curnow, KM. A compound heterozygote case of type II aldosterone synthase deficiency. J Clin Endocrinol Metabol 2003;88:2518–26. https://doi.org/10.1210/jc.2003-030353.Search in Google Scholar PubMed
7. Williams, TA, Mulatero, P, Bosio, M, Lewicka, S, Palermo, M, Veglio, F, et al. A particular phenotype in a girl with aldosterone synthase deficiency. J Clin Endocrinol Metabol 2003;89:3168–72. https://doi.org/10.1210/jc.2003-031912.Search in Google Scholar PubMed
8. Hauffa, BP, Sólyom, J, Gláz, E, Shackleton, CH, Wambach, G, Vecsei, P, et al. Severe hypoaldosteronism due to corticosterone methyloxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies. Eur J Pediatr 1991;150:149–53. https://doi.org/10.1007/bf01963554.Search in Google Scholar PubMed
9. Gopal-Kothandapani, JS, Doshi, AB, Smith, K, Christian, M, Mushtaq, T, Banerjee, I, et al. Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1. J Pediatr Endocrinol Metabol 2019;32:959–67. https://doi.org/10.1515/jpem-2018-0538.Search in Google Scholar PubMed
10. Stowasser, M, Taylor, PJ, Pimenta, E, Ahmed, AH, Gordon, RD. Laboratory investigation of primary aldosteronism. Clin Biochem Rev 2010;31:3956.Search in Google Scholar
11. Collinet, E, Pelissier, P, Richard, O, Gay, C, Pugeat, M, Morel, Y, et al. Four cases of aldosterone synthase deficiency in childhood. Arch Pediatr 2012;19:1191–5. https://doi.org/10.1016/j.arcped.2012.08.018.Search in Google Scholar PubMed
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Articles in the same Issue
- Frontmatter
- Review Article
- The influence of growth hormone therapy on the cardiovascular system in Turner syndrome
- Original Articles
- Clinical utility of urinary gonadotrophins in hypergonadotrophic states as Turner syndrome
- Sclerostin and osteoprotegerin: new markers of chronic kidney disease mediated mineral and bone disease in children
- Monthly intravenous alendronate treatment can maintain bone strength in osteogenesis imperfecta patients following cyclical pamidronate treatment
- Mechanisms and early patterns of dyslipidemia in pediatric type 1 and type 2 diabetes
- Frequency of thyroid dysfunction in pediatric patients with congenital heart disease exposed to iodinated contrast media – a long-term observational study
- Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on assessment of the usefulness of the thyrotropin-releasing hormone (TRH) stimulation test
- Clinical relevance of T lymphocyte subsets in pediatric Graves’ disease
- Long-term follow-up of differentiated thyroid carcinoma in children and adolescents
- A quality improvement project for managing hypocalcemia after pediatric total thyroidectomy
- Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil
- Clinical characteristics, surgical approach, BRAFV600E mutation and sodium iodine symporter expression in pediatric patients with thyroid carcinoma
- BRAFV600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation
- Case Reports
- Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence
- Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review
- Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature
- Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism
- Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures
