Thyroid dysgenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped. It should not be confused with iodine deficiency, or with other forms of congenital hypothyroidism, such as thyroid dyshormonogenesis, where the thyroid is present but not functioning correctly. Congenital hypothyroidism caused by thyroid dysgenesis can be associated with PAX8. Ectopic thyroid
An ectopic thyroid, also called accessory thyroid gland, is a form of thyroid dysgenesis in which an entire or parts of the thyroid located in another part of the body than what is the usual case. A completely ectopic thyroid gland may be located anywhere along the path of the descent of the thyroid during its embryological development, although it is most commonly located at the base of the tongue, just posterior to the foramen cecum of the tongue. In this location, an aberrant or ectopic thyroid gland is known as a lingual thyroid. If the thyroid fails to descend to even higher degree, then the resulting final resting point of the thyroid gland may be high in the neck, such as just below the hyoid bone. Parts of ectopic thyroid tissue ("accessory thyroid tissue") can also occur, and arises from remnants of the thyroglossal duct, and may appear anywhere along its original length. Accessory thyroid tissue may be functional, but is generally insufficient for normal function if the main thyroid gland is entirely removed.Lingual thyroid is 4-7 times more common in females, with symptoms developing during puberty, pregnancy or menopause.
Infections in the CNS, which are rare, present as neutrophilic meningitis or multiple brain abscesses and have a mortality rate of up to 75%. Infections have also been observed in animals, notably corneal infection, abdominal mycetoma and disseminated infections in dogs and horses. Transient colonization is more likely than disease. However, invasive pseudoallescheriasis can be found in patients with prolonged neutropenia, high-dose corticosteroid therapy and allotransplantation of bone marrow. Pseudallescheria boydii has also been implicated in pneumonia subsequent to near-drowning events with infection developing anywhere between a few weeks to several months after exposure yielding high mortality. Dissemination of the organism to the central nervous system has been observed in some cases. This species is also known as a non-invasive colonist of the external ear and airways of patients with poor lung or sinus clearance, and the first documented case of human pseudallescheriasis involved the ear canal. It has also been implicated in infection of joints following traumatic injury, and these infections can progress to osteomyelitis. Infections of the skin and cornea have also been reported. Typical host-related risk factors for infection include lymphopenia, steroid treatment, serum albumin levels of < 3 mg/dL and neutropenia. Diagnosis
Detection and diagnosis of S. apiospermum is possible through isolation of the fungus in culture or through cytology and histopathology in the tissues of diseased individuals. In mycetoma-type infections, a confluence of symptoms is necessary for diagnosis, including tumefaction, draining sinuses and extrusion of grains.