Congenital goiter with areas of signet ring cell differentiation in a juvenile giraffe: a very rare entity

Background Congenital goiter is a common thyroid metabolic disorder characterized by low levels of thyroid hormone, subsequent secretion of excess thyroid-stimulating hormone (TSH) from the pituitary gland, and compensatory hyperplasia of the glands. The presence of signet ring cells (SRCs) does not provide sufficient evidence for the diagnosis of a thyroid tumor, making histopathological diagnosis challenging. In addition, SRCs can also appear in congenital goiter. Therefore, a comprehensive diagnosis of congenital goiter is warranted based on clinical symptoms, autopsy, histopathology, and laboratory examination. Case presentation A juvenile giraffe at the Ordos Zoo in Ordos presented with symptoms of loss of appetite, serious salivation, and slow growth rate since birth. Its height and weight were significantly lower than those of other giraffes of the same age. The animal ultimately died at 17 months of age. Autopsy revelaed that the thyroids were hard, with an uneven surface and with the presence of many small raised follicles, and dense in cross-section. Other organs were visibly atrophic. Histopathologically, diffuse follicles were irregular in size and shape in the hyperplastic goiter. Some follicles were collapsed due to lack of colloids. The follicles were lined by single or multiple layers of hyperplastic follicular cells (HFCs), some of which were exfoliated in the lumen. The HFCs were either cuboidal with eosinophilic cytoplasm and many red small granules or showed SRC differentiation, with nuclei pressed to one edge of the cell and distorted by cytoplasmic mucin that appeared as a single clear vacuole HFCs and as a foamy, multivesicular cytoplasmic material in others. Scattered necrosis of myocardial cells and hepatocytes, cerebral hemorrhage, necrosis of intestinal villi, and obvious atrophy of organs were also observed. Immunohistochemical tests were strongly positive for thyroglobulin and thyroid transcription factor-1 (TTF-1) in the cytoplasm of HFCs. Conclusions Here we present a case of congenital goiter with areas of SRC differentiation in the thyroid of a juvenile giraffe.

Large goiter in a patient with congenital hypothyroidism

Congenital hypothyroidism with goiter is a rare disease. In the early neonatal period, the pathology can manifest itself as both hypothyroidism symptoms and signs of tracheal compression with a large goiter. The most common cause of this disease is antithyroid maternal therapy, which accounts for 10-15% of congenital goiter cases. In the case of an unremarkable maternal history, the main cause of goiter is thyroid hormone dyshormonogenesis. Here, we present a case of congenital hypothyroidism with a giant goiter (55 cm3). The child was intubated soon after birth due to respiratory disorders and asphyxia caused by tracheal compression. In addition, the patient had tricuspid valve insufficiency and cardiomegaly. Levothyroxine substitution therapy initiated on the first day of life led to a rapid decrease in the thyroid volume and structural changes in the heart. The patient`s DNA was analyzed using a wide genetic panel «Congenital hypothyroidism»; no mutations were found. Despite the absence of mutations in genes involved in thyroid formation, we consider dyshormonogenesis as the most likely cause of goiter in our patient.

Congenital multinodular goiter in a neonate presenting with airway obstruction

Background Congenital goiter constitutes a rare cause of congenital neck masses. Goitrous enlargement can be associated with serious airway obstruction. Case description We report a term, girl baby with a large asymmetrical neck mass who presented on day 2 of life. Clinical examination revealed stridor and local examination showed an asymmetric nodular firm swelling with no signs of inflammation. The computerized tomography of the neck and fine needle aspiration cytology (FNAC) confirmed the swelling as being a multinodular goiter. The thyroid function test (TFT) was suggestive of hypothyroid status. Further investigations revealed the cause as being dyshormonogenesis probably secondary to a thyroglobulin synthetic defect. The baby was started on levothroxine supplementation (13 μg/kg/day); neck swelling markedly reduced with normalization of TFT over the next 3 weeks. To the best of our knowledge this is the first reported case of the presence of multinodularity in a baby with congenital goiter.