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Clinical features, diagnosis and treatment outcomes of Cushing's disease in children: A multicenter study
Gürkan Tarçın1, Gönül Çatlı2,3, Semra Çetinkaya4
1Department of Pediatric Endocrinology, Cerrahpaşa Faculty of Medicine, Istanbul University-Cerrahpaşa, Istanbul, Türkiye.
Insights
Pediatric Cushing's disease (CD) diagnosis can be subtle, with variable test sensitivities and MRI limitations. Early recognition and awareness of potential recurrence after treatment are crucial for effective management in children.
Area of Science:
- Pediatric Endocrinology
- Neuroendocrinology
- Clinical Medicine
Background:
- Cushing's disease (CD) is rare in children, leading to limited pediatric-specific data.
- Understanding the unique clinical, diagnostic, and therapeutic aspects of pediatric CD is essential.
Purpose of the Study:
- To present national data on the clinical features, diagnostic approaches, and treatment outcomes of pediatric Cushing's disease.
- To highlight challenges in diagnosing and managing CD in the pediatric population.
Main Methods:
- A national, multicenter, retrospective study involving 34 pediatric patients with CD.
- Data collection included initial complaints, physical findings, diagnostic tests, treatments, and follow-up information.
Main Results:
- The most common symptoms were rapid weight gain and a round face with plethora.
- Late-night serum cortisol and morning adrenocorticotropic hormone (ACTH) levels showed high sensitivity for diagnosis.
- Magnetic resonance imaging (MRI) detected adenoma in 70.5% of cases; transsphenoidal adenomectomy (TSA) was the primary treatment.
- Recurrence or surgical failure occurred in 24% of patients post-TSA.
Conclusions:
- Pediatric CD often presents with subtle symptoms, necessitating careful clinical evaluation.
- Diagnostic test sensitivities vary, requiring expert interpretation.
- MRI may not detect adenomas in all pediatric CD cases.
- Clinicians must monitor for disease recurrence after surgical intervention.
Objective:
Since Cushing's disease (CD) is less common in the paediatric age group than in adults, data on this subject are relatively limited in children. Herein, we aim to share the clinical, diagnostic and therapeutic features of paediatric CD cases.
Design:
National, multicenter and retrospective study.
Patients:
All centres were asked to complete a form including questions regarding initial complaints, physical examination findings, diagnostic tests, treatment modalities and follow-up data of the children with CD between December 2015 and March 2017.
Measurements:
Diagnostic tests of CD and tumour size.
Results:
Thirty-four patients (M:F = 16:18) from 15 tertiary centres were enroled. The most frequent complaint and physical examination finding were rapid weight gain, and round face with plethora, respectively. Late-night serum cortisol level was the most sensitive test for the diagnosis of hypercortisolism and morning adrenocorticotropic hormone (ACTH) level to demonstrate the pituitary origin (100% and 96.8%, respectively). Adenoma was detected on magnetic resonance imaging (MRI) in 70.5% of the patients. Transsphenoidal adenomectomy (TSA) was the most preferred treatment (78.1%). At follow-up, 6 (24%) of the patients who underwent TSA were reoperated due to recurrence or surgical failure.
Conclusions:
Herein, national data of the clinical experience on paediatric CD have been presented. Our findings highlight that presenting complaints may be subtle in children, the sensitivities of the diagnostic tests are very variable and require a careful interpretation, and MRI fails to detect adenoma in approximately one-third of cases. Finally, clinicians should be aware of the recurrence of the disease during the follow-up after surgery.
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