Metyrapone as treatment in the neonatal McCune-Albright syndrome
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2020 |
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| Enthalten in: |
Journal of pediatric endocrinology & metabolism : JPEM - (2020) vom: 22. Juli |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
de Mingo, Carmen [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Revised 27.02.2024 published: Print-Electronic Citation Status Publisher |
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| doi: |
10.1515/jpem-2020-0036 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM312738773 |
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| 500 | |a Date Revised 27.02.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status Publisher | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a McCune–Albright syndrome | |
| 650 | 4 | |a endocrinology | |
| 650 | 4 | |a metabolism | |
| 650 | 4 | |a metyrapone | |
| 650 | 4 | |a neonatal cushing syndrome | |
| 650 | 4 | |a pediatric | |
| 650 | 4 | |a pharmacy | |
| 700 | 1 | |a Brugada, María |e verfasserin |4 aut | |
| 700 | 1 | |a León, Sara |e verfasserin |4 aut | |
| 700 | 1 | |a Moreno, Francisca |e verfasserin |4 aut | |
| 700 | 1 | |a Vila, Nieves |e verfasserin |4 aut | |
| 700 | 1 | |a Palanques-Pastor, Tomás |e verfasserin |4 aut | |
| 700 | 1 | |a Poveda, José Luis |e verfasserin |4 aut | |
| 700 | 1 | |a Orti, Carlos |e verfasserin |4 aut | |
| 700 | 1 | |a García-Robles, Ana |e verfasserin |4 aut | |
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