Metyrapone as treatment in the neonatal McCune–Albright syndrome
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Abstract
Objectives
To present a case report of succesfully metyrapone treatment of a neonatal patient with McCune–Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopathies, bone dysplasia, and café-au-lait spots.
Case presentation
A preterm newborn was admitted to hospital and she presented difficulty controlling hypertension, café-au-lait spots, and failure to thrive. An abdominal ultrasound and a magnetic resonance showed a high volume of both suprarenal glands. Therefore, MAS was suspected. Laboratory data confirmed adrenocorticotropic hormone-independent Cushing’s syndrome with hepatic dysfunction and metyrapone treatment was initiated. A progressive normalization of cortisol levels was achieved despite poor oral tolerance.
Conclusion
Our case shows that metyrapone is useful in the management of neonatal Cushing’s syndrome due to McCune–Albright syndrome.
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Research funding: None declared.
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Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Informed consent: Informed consent was obtained to use the patient´s information and pictures.
References
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Review Article
- Pharmacological treatment strategies for patients with monogenic obesity
- Original Articles
- Influence of FTO (Fat mass and obesity) gene and parental obesity on Brazilian children and adolescents adiposity
- Developing waist circumference, waist-to-height ratio percentile curves for Pakistani children and adolescents aged 2–18 years using Lambda-Mu-Sigma (LMS) method
- Screening for celiac disease among children with overweight and obesity: toward exploring celiac iceberg
- Relationship between breastfeeding and obesity in high school girls
- Saudi children with celiac disease: are they at risk of developing type-1 diabetes mellitus?
- The relation of serum endocan and soluble endoglin levels with metabolic control in children and adolescents with type 1 diabetes mellitus
- From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus
- Thyroid peroxidase antibodies are common in children with HLA-conferred susceptibility to type 1 diabetes, but are weakly associated with thyroid function
- Individualized dosimetry in children and young adults with differentiated thyroid cancer undergoing iodine-131 therapy
- Association study of DLK1 in girls with idiopathic central precocious puberty
- Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study
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- Utility and duration of leuprolide stimulation testing in children
- Effect of an interval rehabilitation program with home-based, vibration-assisted training on the development of muscle and bone in children with cerebral palsy – an observational study
- Case Reports
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- Tumor-induced rickets-osteomalacia: an enigma
- Porto-systemic shunt – a rare cause of hyperandrogenism in children. Two case reports and review of literature
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