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Case 308: Van Wyk-Grumbach Syndrome.
Devasenathipathy Kandasamy1, Rohan Malik1, Rajni Sharma1
1From the Departments of Radiodiagnosis (D.K., M.J.) and Paediatrics (R.M., R.S.), All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India 110029.
Radiology
|November 21, 2022
Summary
A pediatric case highlights ovarian cysts and hypothyroidism in an 11-year-old girl presenting with abdominal distention. Early diagnosis and medical treatment led to significant improvement, underscoring the importance of comprehensive evaluation.
Area of Science:
- Pediatric Endocrinology
- Reproductive Endocrinology
- Pediatric Gastroenterology
Background:
- This case report focuses on an 11-year-old girl with a two-year history of gradually increasing, painless abdominal distention.
- The patient presented with early satiety and lower abdominal heaviness, with physical examination revealing a soft, infraumbilical abdominal mass.
Observation:
- The patient exhibited signs of hypothyroidism, including elevated thyroid-stimulating hormone (TSH) and low triiodothyronine and thyroxine levels.
- Imaging studies (CT and US) identified multiple large ovarian cysts.
- She also presented with short stature (104 cm) and delayed pubertal development (Tanner stage I for pubic and axillary hair).
Findings:
- Laboratory results confirmed severe primary hypothyroidism (TSH: 1354.34 µIU/mL).
- Ovarian cysts were diagnosed via abdominopelvic CT and ultrasound.
- Skeletal survey was performed to assess for hypothyroidism-related changes.
Implications:
- This case underscores the importance of considering endocrine disorders, particularly hypothyroidism, in the differential diagnosis of abdominal distention and ovarian pathology in pediatric patients.
- Prompt medical management of hypothyroidism and ovarian cysts led to clinical improvement.
- Integrated care involving pediatric gastroenterology, endocrinology, and radiology is crucial for managing complex pediatric cases.
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