Abstract Thyroid hormone (TH) synthesis and release is under feedback regulation by the hypothalamic input to the pituitary via thyroid-stimulating hormone (TSH) and thyroid-releasing hormone (TRH) resulting in pituitary secretion…
Abstract Hypopituitarism is defined as the deficiency of one or more of the anterior pituitary hormones: growth hormone, thyroid stimulating hormone, lutenizing hormone, follicle stimulating hormone, prolactin, and adrenocorticotrophic hormone….
Abstract With a prevalence of one in 3000–4000 newborns, congenital hypothyroidism (CH) is the most common inborn endocrine disorder and one of the most common preventable causes of mental retardation….
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…
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…
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…
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…
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…
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…
