Developmental Abnormalities of the Thyroid
Abstract Developmental anomalies of the thyroid gland (thyroid dysgenesis) underlie the majority of cases of congenital hypothyroidism. Only a small number of monogenic defects have been shown to result in…
ENDOCRINOLOGY
Mechanisms of Mutation
Abstract Mutation is a sudden, inheritable change in DNA sequence. Single nucleotide variation (SNV), insertion or deletion of a few nucleotides (indels), rearrangements, change in the number of copies of…
Functioning Pituitary Adenomas
Abstract Many molecular genetic abnormalities have been recognized in the setting of anterior pituitary adenomas. However, pituitary adenomas with heritable genetic causes are rare and have been described most often…
Hypoglycemia
Abstract Hypoglycemia is a disorder with manifold potential etiologies, from environmental to inherited, from presenting in isolation to presenting as a small part of a clinical syndrome, from insulin excess…
Imaging for Thyroid Nodules
Fig. 5.1 Simple thyroid cyst Fig. 5.2 Colloid cystic nodule Another pattern to recognize as a benign nodule is the “spongiform nodule” also described in the literature as honeycomb or…
Description and Classification of Thyroid Cytology
Fig. 7.1 Benign macrofollicular cluster with uniform, evenly spaced nuclei Fig. 7.2 Benign macrofollicular clusters and pools of colloid from a benign thyroid nodule aspirate Fig. 7.3 Mixture of histiocytes…
Nuclear Medicine in Evaluation and Therapy of Nodular Thyroid
Radionuclide Half-life Main emission Radiopharmaceutical Clinical use or relevance to thyroid nodules 123I 13 h Gamma [123I] NaI Scintigraphy and iodine uptake 124I 4 d Gamma and positron [124I] NaI…
Surgery for Thyroid Nodules
Fig. 12.1 High suspicion thyroid nodule with hypoechoic appearance and microcalcifications Fig. 12.2 Intermediate suspicion thyroid nodule with hypoechoic appearance and smooth borders Fig. 12.3 Low suspicion thyroid nodule with…
Multinodular Goiter
Study (location, year) MNG SN Diagnostic method OR (CI) Events Population Events Population Abu-Eshy et al. (Saudi Arabia, 1995) 14 172 16 105 Surgery 0.49 (0.23–1.06) Belfiore et al. (Italy,…
Thyroid Nodules in Children
Syndrome Gene Chromosomal location Inheritance Type of cancer Other features Isolated FMTC [151] RET 10q11.2 AD MTC MEN2A [151] RET 10q11.2 AD MTC Pheochromocytoma, hyperparathyroidism MEN2B [151] RET 10q11.2 AD…
