Diabetes Insipidus
Abstract Diabetes insipidus is characterized by the excretion of abnormally large volumes of dilute urine under conditions of ad libitum fluid intake. In rare cases, it is caused by mutations…
ENDOCRINOLOGY
Molecular Diagnosis of Thyroid Cancer
Abstract Fine-needle aspiration cytology (FNAC) represents the gold standard for the evaluation of thyroid nodules, although 20% to 30% of FNAC have indeterminate cytology, recognizing the problem of the correct…
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…
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…
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…
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…
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…
