Euthyroid goiter
- Synonyms
- GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; MULTINODULAR GOITER, ADOLESCENT; SIMPLE GOITER
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Kris Ann P Schultz
- Douglas R Stewart
- Junne Kamihara
- view full author information
Available tests
41 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (41 available)
Clinical features
Help- Abnormality of the endocrine system
- Euthyroid multinodular goiter
Euthyroid multinodular goiter
- MedGen UID: 335327
- Concept ID: C1846034
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Euthyroid multinodular goiter
- Neoplasm
- Papillary thyroid carcinoma
Papillary thyroid carcinoma
- MedGen UID: 66773
- Concept ID: C0238463
- Finding: Neoplastic Process
Neoplasm
- Papillary thyroid carcinoma
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