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Successful Use of Metyrapone Suppositories in an Infant with Neonatal Cushing and McCune Albright Syndrome: A Case
Diana-Alexandra Ertl1,2,3, Gerda Ratzinger-Stoeger4, Adalbert Raimann1,2
1Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
Insights
This study demonstrates the successful long-term use of metyrapone suppositories for treating hypercorticism in a child with McCune-Albright syndrome (MAS). This novel rectal administration route improved clinical outcomes and tolerability, offering a promising alternative therapy.
Area of Science:
- Pediatric Endocrinology
- Pharmacology
- Genetics and Rare Diseases
Background:
- Perinatal hypercorticism presents significant mortality and long-term complications.
- Metyrapone is used for McCune-Albright syndrome (MAS) related hypercorticism but has poor tolerability.
- Existing metyrapone formulations can cause local irritation and side effects.
Introduction:
Perinatal hypercorticism, regardless of its cause, has a high mortality or leads to life-long lasting complications. Some publications reported on the use of metyrapone in children with McCune Albright syndrome (MAS) and hypercorticism but also mentioned its poor tolerability.
Case Presentation:
We present the case of a toddler in whom we diagnosed MAS based on pseudo-precocious puberty and hypercorticism at the age of 10 months. In light of hepatopathy, we decided to start the off-label treatment with metyrapone. Being aware of the challenges of this treatment with the only available product (gelatine capsule containing liquid metyrapone) and reports on local irritation and significant side effects after the oral and intrarectal administration of liquid metyrapone, diluted or undiluted, we decided to use the rectal application as suppositories. We started with the dose of 300 mg/m2/day (one administration every 6 h), with the intention to "block and replace," using repeated measurements of serum morning and 23:00 cortisol, salivary cortisol, and 24-h urine steroid profile. After just 2 weeks, we discharged our patient with normal cortisol levels, without additional hydrocortisone substitution and with a total metyrapone dose of 900 mg/m2/day. Lipid profile and arterial pressure normalized, while growth velocity improved progressively.
Conclusion:
We present the first successful, long-term use of metyrapone as suppositories, with no adverse side effects and striking clinical and biochemical improvement.
Introduction:
Perinatal hypercorticism, regardless of its cause, has a high mortality or leads to life-long lasting complications. Some publications reported on the use of metyrapone in children with McCune Albright syndrome (MAS) and hypercorticism but also mentioned its poor tolerability.
Case Presentation:
We present the case of a toddler in whom we diagnosed MAS based on pseudo-precocious puberty and hypercorticism at the age of 10 months. In light of hepatopathy, we decided to start the off-label treatment with metyrapone. Being aware of the challenges of this treatment with the only available product (gelatine capsule containing liquid metyrapone) and reports on local irritation and significant side effects after the oral and intrarectal administration of liquid metyrapone, diluted or undiluted, we decided to use the rectal application as suppositories. We started with the dose of 300 mg/m2/day (one administration every 6 h), with the intention to "block and replace," using repeated measurements of serum morning and 23:00 cortisol, salivary cortisol, and 24-h urine steroid profile. After just 2 weeks, we discharged our patient with normal cortisol levels, without additional hydrocortisone substitution and with a total metyrapone dose of 900 mg/m2/day. Lipid profile and arterial pressure normalized, while growth velocity improved progressively.
Conclusion:
We present the first successful, long-term use of metyrapone as suppositories, with no adverse side effects and striking clinical and biochemical improvement.
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