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Published on: September 15, 2017
Pediatric Cushing's disease: Case reports and retrospective review
Renata Pomahacova1, Petra Paterova1, Eva Nykodymova1
1Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University in Prague, Czech Republic.
Insights
Pediatric Cushing's disease (CD) often presents with growth retardation and facial changes before puberty. Early diagnosis and treatment are crucial for positive outcomes in children.
Area of Science:
- Pediatric Endocrinology
- Neuroendocrinology
- Pediatric Oncology
Background:
- Cushing's disease (CD) in children presents unique diagnostic challenges.
- This study analyzes four pediatric cases diagnosed in the Czech Republic.
- Focuses on early symptoms, diagnostic difficulties, and post-treatment outcomes.
Observation:
- Growth retardation and facial changes (moon face) are initial indicators of Cushing's syndrome (CS).
- Pseudo-precocious puberty, hirsutism, and pubertal delay are common in pediatric CS.
- The study details the diagnostic process, including biochemical and radiological assessments.
Findings:
- Growth retardation typically precedes the development of a "moon face" in pediatric CD.
- Transsphenoidal pituitary surgery (TSS) was performed on four pediatric patients.
- Post-surgical outcomes regarding growth, sexual development, and pituitary function were evaluated.
Implications:
- Distinct clinical features of pediatric CD require tailored diagnostic and management strategies.
- Biochemical tests like CRH stimulation and BIPSS are vital for confirming CD and differentiating from ectopic ACTH syndrome.
- Accurate diagnosis and timely intervention are essential for improving long-term outcomes in pediatric CD patients.
Background:
We report four pediatric subjects with Cushing's disease (CD) diagnosed in the Czech Republic. We focus on initial symptoms of Cushing's syndrome (CS) which can lead to early diagnosis, on typical symptoms of CS in children, their age and sex distribution, the mean length of symptoms prior to diagnosis, indication for examination, post-cure growth, sexual development and pituitary function in our four CD patients after transsphenoidal pituitary surgery (TSS). We describe the diagnostic process leading to confirmation of CD and we emphasize the biochemical and radiological diagnostic difficulties.
Conclusions:
Pediatric CD has a number of features distinct from adult CD. Our retrospective analysis confirmed the presence of growth retardation and change in facial appearance with development of moon face as the first symptoms of CS. According to our observation, growth retardation is prior to development of moon face. The other typical symptoms frequently seen in pediatric patients are pseudo-precocious puberty in both sexes, hirsutism in pubertal girls due to excessive adrenal androgen secretion and pubertal delay. A corticotropin-releasing hormone (CRH) test and especially bilateral inferior petrosal sinus sampling for ACTH (BIPSS) contribute to confirming the diagnosis of CD and excluding ectopic ACTH syndrome in children with unvisible adenoma on pituitary magnetic resonance imaging (MRI).
