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de Mingo C, Brugada M, León S, et al. Metyrapone as treatment in the neonatal McCune-Albright syndrome. J Pediatr Endocrinol Metab. 2020;doi: 10.1515/jpem-2020-0036.
de Mingo, C., Brugada, M., León, S., Moreno, F., Vila, N., Palanques-Pastor, T., Poveda, J. L., Orti, C., & García-Robles, A. (2020). Metyrapone as treatment in the neonatal McCune-Albright syndrome. Journal of pediatric endocrinology & metabolism : JPEM, . https://doi.org/10.1515/jpem-2020-0036
de Mingo, Carmen, et al. "Metyrapone as treatment in the neonatal McCune-Albright syndrome." Journal of pediatric endocrinology & metabolism : JPEM vol. (2020). doi: https://doi.org/10.1515/jpem-2020-0036
de Mingo C, Brugada M, León S, Moreno F, Vila N, Palanques-Pastor T, Poveda JL, Orti C, García-Robles A. Metyrapone as treatment in the neonatal McCune-Albright syndrome. J Pediatr Endocrinol Metab. 2020 Jul 22; doi: 10.1515/jpem-2020-0036. Epub 2020 Jul 22. PMID: 32697759.
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J Pediatr Endocrinol Metab. 2020 Jul 22; doi: 10.1515/jpem-2020-0036. Epub 2020 Jul 22.

Metyrapone as treatment in the neonatal McCune-Albright syndrome.

Journal of pediatric endocrinology & metabolism : JPEM

Carmen de Mingo, María Brugada, Sara León, Francisca Moreno, Nieves Vila, Tomás Palanques-Pastor, José Luis Poveda, Carlos Orti, Ana García-Robles

Affiliations

  1. Division of Pediatric Endocrinology, University and Polytechnic Hospital La Fe, Valencia, Spain.
  2. Neonatal Research Group, Health Research Institute La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.
  3. Division of Neonatology, University and Polytechnic Hospital La Fe, Valencia, Spain.
  4. Division of Pharmacy, University and Polytechnic Hospital La Fe, Valencia, Spain.

PMID: 32697759 DOI: 10.1515/jpem-2020-0036

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.

Keywords: McCune–Albright syndrome; endocrinology; metabolism; metyrapone; neonatal cushing syndrome; pediatric; pharmacy

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