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July 25, 2023Frontiers in EndocrinologyOpen Access

Case Report: Severe McCune–Albright syndrome presenting with neonatal Cushing syndrome: navigating through clinical obstacles

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Why the study?

Neonatal Cushing syndrome in McCune-Albright syndrome usually has an unfavorable outcome, and a unified approach to diagnosis, treatment, and follow-up is lacking.

Population

An 11-day-old girl with ACTH-independent Cushing syndrome due to McCune-Albright syndrome

Design

Case report

Follow-up

34 months

Key result

In a neonate with severe Cushing syndrome due to McCune-Albright syndrome, high-dose metyrapone failed to achieve remission, but right total and left three-quarters adrenalectomy successfully resolved hypercortisolism.

Authors

YÜYağmur ÜnsalOGOnur GözmenİÜİdil Rana Üser

Discussion

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Member takes

Overview

Supports individualized management of neonatal MAS with CS; leaves open standardized protocols from larger studies.

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

P
Population
A single 11-day-old female neonate with severe McCune-Albright syndrome presenting with neonatal Cushing syndrome, followed for 34 months.
I
Intervention
Metyrapone (started at 300 mg/m2/day, increased up to 1,850 mg/m2/day) followed by right total and left three-quarters adrenalectomy at 9 months
O
Outcome
Remission of hypercortisolism

Neonatal Cushing syndrome due to McCune-Albright syndrome can be successfully managed with adrenalectomy when medical therapy fails.

Limitations

  • Single case report
  • Lack of specific guidelines for diagnosis, treatment, or follow-up
  • Cross-reactivity in cortisol immunoassays complicating biochemical monitoring during metyrapone therapy

Cite This Study

Ünsal et al. (2023) conducted a case report in McCune-Albright syndrome with neonatal Cushing syndrome (n=1). Metyrapone and partial adrenalectomy was evaluated on Clinical and biochemical remission of hypercortisolism. In a neonate with severe Cushing syndrome due to McCune-Albright syndrome, high-dose metyrapone failed to achieve remission, but right total and left three-quarters adrenalectomy successfully resolved hypercortisolism.

synapsesocial.com/papers/6a791d4f85ba73624301f5a2https://doi.org/10.3389/fendo.2023.1209189
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