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Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy
- Source :
- Archives of Endocrinology and Metabolism, Vol 63, Iss 1, Pp 79-83
- Publisher :
- Brazilian Society of Endocrinology and Metabolism
-
Abstract
- SUMMARY Thyroid carcinoma (TC) is rare in children, particularly in those aged < 10 years. Several studies have demonstrated a correlation between neoplasms and hyperinsulinemia and insulin resistance, which are often associated with a higher risk for and/or aggressiveness of the neoplasm. Congenital generalized lipodystrophy (CGL) with autosomal recessive inheritance is a rare disease and is characterized by the lack of adipose tissue, severe insulin resistance, and early metabolic disturbances. Here, we reported a rare case of a type 2 CGL in a girl who presented with a papillary TC (PTC) at the age of 7 years. She had no family history of TC or previous exposure to ionizing radiation. She had a generalized lack of subcutaneous fat, including the palmar and plantar regions, muscle hypertrophy, intense acanthosis nigricans, hepatomegaly, hypertriglyceridemia, severe insulin resistance, and hypoleptinemia. A genetic analysis revealed a mutation in the BSCL2 gene (p.Thr109Asnfs* 5). Ultrasound revealed a hypoechoic solid nodule measuring 1.8 × 1.0 × 1.0 cm, and fine needle aspiration biopsy suggested malignancy. Total thyroidectomy was performed, and a histopathological examination confirmed PTC with vascular invasion and parathyroid lymph node metastasis (pT3N1Mx stage). This is the first report to describe a case of differentiated TC in a child with CGL. Severe insulin resistance that is generally observed in patients with CGL early in life, especially in those with type 2 CGL, may be associated with this uncommon presentation of aggressive PTC during childhood.
- Subjects :
- Pathology
medicine.medical_specialty
lcsh:RC648-665
medicine.diagnostic_test
business.industry
Endocrinology, Diabetes and Metabolism
lcsh:R
lcsh:Medicine
030209 endocrinology & metabolism
medicine.disease
lcsh:Diseases of the endocrine glands. Clinical endocrinology
Congenital generalized lipodystrophy
03 medical and health sciences
0302 clinical medicine
Insulin resistance
030220 oncology & carcinogenesis
Biopsy
medicine
Hyperinsulinemia
Lipodystrophy
business
Thyroid cancer
Acanthosis nigricans
Rare disease
Subjects
Details
- Language :
- English
- ISSN :
- 23594292
- Volume :
- 63
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Archives of Endocrinology and Metabolism
- Accession number :
- edsair.doi.dedup.....5947508f42feec9cad9d96b8cbbf3a1a